MedWorm: Huntington's Disease

[Original articles] Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

Journal of Medical Genetics — Tue, 30 Jun 2009 23:00:00 +0100

Conclusion: Our data suggest a novel function for wild-type huntingtin as a co-factor of LXR. However, this activity is lost by mutant huntingtin that only interacts weakly with LXR. (Source: Journal of Medical Genetics)

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Photostatistics reconstruction via loop detector signatures

Optics Express — Tue, 30 Jun 2009 16:37:53 +0100

Photon-number resolving detectors are a fundamental building-block of optical quantum information processing protocols. A loop detector, combined with appropriate statistical processing, can be used to convert a binary on/off photon counter into a photon-number-resolving detector. Here we describe ... (Source: Optics Express)

Smoking and aggressive prostate cancer: a review of the epidemiologic evidence

Cancer Causes and Control — Mon, 29 Jun 2009 08:16:11 +0100

Abstract Although tobacco use has been recognized as one of the leading causes of cancer morbidity and mortality, a role of smoking in the occurrence of prostate cancer has not been established. However, evidence indicates that factors that influence the incidence of prostate cancer may differ from those that influence progression and fatality from the disease. Thus, we reviewed and summarized results from prospective cohort studies that assessed the relation between smoking and fatal prostate cancer risk, as well as epidemiological and clinical studies that focused on aggressive behavior in prostate cancer, such as poorer survival, advanced stage, or poorer differentiation at diagnosis. The majority of the prospective cohort studies showed that current smoking is associat...

Diagnosis and staging of mild cognitive impairment, using a modification of the clinical dementia rating scale: the mCDR

International Journal of Geriatric Psychiatry — Sun, 28 Jun 2009 23:00:00 +0100

To examine the reliability and validity of the mCDR, a modified version of the clinical dementia rating (CDR) scale.The mCDR is an informant-based, technician-administered, structured interview with multiple choice responses, which does not include objective cognitive testing. Subjects (n = 556) with no cognitive impairment (NCI), amnestic mild cognitive impairment (aMCI), and dementia were assessed with mCDR, CDR, and neuropsychological evaluation, while medial temporal atrophy (MTA) was measured on MRI scans. The mCDR and CDR were compared with respect to inter-rater reliability, validity, and ability to predict progression in cognitive diagnosis at 12 month follow-up.The mCDR can be administered in less than one third of the time required to administer the CDR (30 min). Inter-rater reli...

Down-regulation of Bcl-2 enhances autophagy activation and cell death induced by mitochondrial dysfunction in rat striatum

Journal of Neuroscience Research — Sun, 28 Jun 2009 23:00:00 +0100

In vivo administration of the mitochondrial inhibitor 3-nitropropionic acid (3-NP) produces striatal pathology mimicking Huntington's disease (HD). However, the mechanisms of cell death induced by metabolic impairment are not fully understood. Previous studies showed that 3-NP triggered p53-depedent autophagy activation and cell death. The present study investigated the contribution of the Bcl-2 signaling pathway to autophagy activation and cell death induced by 3-NP. Rat striatum was intoxicated with 3-NP by stereotaxic injection. 3-NP up-regulated the expression of the autophagic protein beclin 1 but down-regulated the expression of the antiapoptotic protein Bcl-2. Pretreatment with the autophagy inhibitor 3-methyladenine (3-MA) significantly inhibited the 3-NP-induced alterations in bec...

Subtle but progressive cognitive deficits in the female tgHD hemizygote rat as demonstrated by operant SILT performance.

Brain Research Bulletin — Sat, 27 Jun 2009 18:34:32 +0100

Authors: Brooks S, Fielding S, Döbrössy M, von Hörsten S, Dunnett S In accordance with the genetic nature of Huntington's disease (HD), transgenic and knock-in mouse models have been developed that have sought to recapitulate the key features of the human condition. To date, only a single rat model has been developed, the tgHD rat that carries 51 CAG repeats. The tgHD rat has many of the anatomical and behavioural characteristics of HD, including cognitive, emotional and motor abnormalities. To characterize this model further, hemizygous tgHD rats were tested on an operant serial implicit learning task (SILT), to determine whether these animals have an implicit learning deficit as reported in HD patients. The SILT utilises a predictable two-stage sequence of responding t...

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[A female patient with late-onset schizophrenia and fear of Katwijk disease]

Tijdschrift voor Psychiatrie — Sat, 27 Jun 2009 12:16:03 +0100

Authors: Veerman SR, Sno HN, Ravelli DP, Roos RA A 66-year-old patient had suffered from late-onset schizophrenia from the age of 44. Her family history included reports of brain haemorrhages, possibly resulting from hereditary amyloidal angiopathy of the Dutch type (Katwijk disease). She was very afraid for having this disease. The progression of the psychiatric symptoms and the age at which they began, led us to suspect an organic process. Differential diagnoses that were discussed included cerebral amyloidal angiopathy, frontal lobe dementia and Huntington's disease. PMID: 19434580 [PubMed - indexed for MEDLINE] (Source: Tijdschrift voor Psychiatrie)

Motor abnormalities in premanifest persons with Huntington's disease: The PREDICT-HD study

Movement Disorders — Thu, 25 Jun 2009 23:00:00 +0100

The PREDICT-HD study seeks to identify clinical and biological markers of Huntington's disease in premanifest individuals who have undergone predictive genetic testing. We compared baseline motor data between gene-expansion carriers (cases) and nongene-expansion carriers (controls) using t-tests and Chi-square. Cases were categorized as near, mid, or far from diagnosis using a CAG-based formula. Striatal volumes were calculated using volumetric magnetic resonance imaging measurements. Multiple linear regression associated total motor score, motor domains, and individual motor items with estimated diagnosis and striatal volumes. Elevated total motor scores at baseline were associated with higher genetic probability of disease diagnosis in the near future (partial R2 0.14, P < 0.0001) and sm...

[Molecular Basis Of Cell and Developmental Biology] Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease

Journal of Biological Chemistry — Thu, 25 Jun 2009 23:00:00 +0100

The induction of Rrs1 expression is one of the earliest events detected in a presymptomatic knock-in mouse model of Huntington disease (HD). Rrs1 up-regulation fulfills the HD criteria of dominance, striatal specificity, and polyglutamine dependence. Here we show that mammalian Rrs1 is localized both in the nucleolus as well as in the endoplasmic reticulum (ER) of neurons. This dual localization is shared with its newly identified molecular partner 3D3/lyric. We then show that both genes are induced by ER stress in neurons. Interestingly, we demonstrate that ER stress is an early event in a presymptomatic HD mouse model that persists throughout the life span of the rodent. We further show that ER stress also occurs in postmortem brains of HD patients. (Source: Journal of Biological Chemist...

Religion, Pragmatic Fundamentalism and the Transformation of the Northern Ireland Conflict. - Ganiel G, Dixon P.

SafetyLit: All (Unduplicated) — Thu, 25 Jun 2009 08:28:49 +0100

Since 11 September 2001, the religious dimension of conflict has been the focus of increasing attention. In The Clash of Civilizations, Huntington has identified the West in religious--cultural terms, as Christian with a dominant democratic culture emphasi... (Source: SafetyLit: All (Unduplicated))

Daytime somnolence and nocturnal sleep disturbances in Huntington disease

Parkinsonism and Related Disorders — Thu, 25 Jun 2009 07:52:09 +0100

In this study we have assessed nocturnal sleep and daytime somnolence in 30 patients recruited from a subspecialty HD clinic. Disturbed nocturnal sleep and excessive daytime somnolence were common in this cohort. Further studies employing objective measures of sleep/daytime somnolence in the HD population are needed. (Source: Parkinsonism and Related Disorders)

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UT San Antonio researcher wins $917,000 from NIH to study memory

EurekAlert! - Biology — Thu, 25 Jun 2009 04:00:00 +0100

(University of Texas at San Antonio) University of Texas at San Antonio neuroscience researcher Brian Derrick has won $917,000 in funding from the National Institutes of Health to research the effects of time on the preservation of episodic, or autobiographical, memories by the brain's dentate gyrus.Although memory loss is most commonly associated with aging, it is also symptomatic of more debilitating diseases, including Alzheimer's, Parkinson's and Huntington's diseases, which collectively afflict 9.3 million people around the world. (Source: EurekAlert! - Biology)

Scientists Identify Culprit in Huntington's Disease

NIH Research Matters from the National Institutes of Health (NIH) — Mon, 22 Jun 2009 17:35:00 +0100

(Source: NIH Research Matters from the National Institutes of Health (NIH))

CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics — Sun, 21 Jun 2009 23:00:00 +0100

CAG-repeat length in the gene for HD is inversely correlated with age of onset (AOO). A number of statistical models elucidating the relationship between CAG length and AOO have recently been published. In the present article, we review the published formulae, summarize essential differences in participant sources, statistical methodologies, and predictive results. We argue that unrepresentative sampling and failure to use appropriate survival analysis methodology may have substantially biased much of the literature. We also explain why the survival analysis perspective is necessary if any such model is to undergo prospective validation. We use prospective diagnostic data from the PREDICT-HD longitudinal study of CAG-expanded participants to test conditional predictions derived from two su...

BDNF regulates Bim expression levels in 3-nitropropionic acid -treated cortical neurons.

Neurobiology of Disease — Sun, 21 Jun 2009 23:00:00 +0100

In this study we investigated the ability of brain-derived neurotrophic factor (BDNF) to suppress mitochondrial-dependent cell death induced by 3-NP in primary cortical neurons. This neurotrophin prevented 3-NP-induced release of cytochrome c and Smac/Diablo, caspase-3-like activity and nuclear condensation/fragmentation. Furthermore, it greatly increased phosphorylation of Akt and MAPK, suggesting the involvement of these signalling pathways in BDNF neuroprotection. Interestingly, BDNF decreased the levels of the pro-apoptotic protein Bim in mitochondrial and total cell lysates through the activation of the MEK1/2 pathway. This effect was due to an increase in the degradation rates of Bim. Our data support an important role for BDNF, in protecting cortical neurons against apoptotic cell d...

A Multilevel Analysis of Social Ties and Social Cohesion among Latinos and Their Neighborhoods: Results from Chicago

Journal of Urban Health — Fri, 19 Jun 2009 06:48:58 +0100

Abstract Research suggests that, among Latinos, there are health benefits associated with living in a neighborhood populated with coethnics. While social networks and social cohesion are the proposed explanation for the salubrious effect and are assumed to be characteristics of Latino immigrant enclaves, evidence for this is limited. We used multilevel regression to test the relative contribution of individual race/ethnicity and neighborhood concentration of Mexican Americans as predictors of social networks and social cohesion. After accounting for personal characteristics, we found a negative association between neighborhood concentration of Mexican Americans and social cohesion. Among Latinos, living in a neighborhood with increased coethnics was associated with increas...

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Frederick V. Hunt Postdoctoral Research Fellowship in Acoustics

ScanGrants feed — Thu, 18 Jun 2009 23:00:00 +0100

1. ELIGIBILITY. To be eligible for the Fellowship a person shall have recently received his or herdoctorate degree, or shall be receiving the degree in the Spring of 2010. Qualification for the award requires completion of an Application Form and of Attachment A thereto.Attachment A provides for agreement by the institution where the research is to be conducted that properfacilities will be made available to the candidate, if selected. It is the responsibility of candidates to obtainthe requisite approval from their chosen institution. Each candidate shall be a member of the Acoustical Society of America prior to applying for the HuntFellowship. 2. CRITERIA FOR THE FELLOWSHIP. The recipient of the Fellowship will be that individual who,through personal qualifications and a proposed resear...

Creating zinc monkey wrenches in the treatment of epigenetic disorders.

Current Opinion in Chemical Biology — Thu, 18 Jun 2009 23:00:00 +0100

Authors: Kalin JH, Butler KV, Kozikowski AP The approval of suberoylanilide hydroxamic acid by the FDA for the treatment of cutaneous T-cell lymphoma in October, 2006 sparked a dramatic increase in the development of inhibitors for the class of enzymes known as the histone deacetylases (HDACs). In recent years, a large number of combination therapies involving histone deacetylase inhibitors (HDACIs) have been developed for the treatment of a variety of malignancies and neurodegenerative disorders. Promising evidence has been reported for the treatment of pancreatic cancer, prostate cancer, and leukemia as well as a number of other previously difficult to treat cancers. Drug combination approaches have also shown promise for the treatment of mood disorders including bipolar disorder and...

Human choriogonadotropin prior to controlled ovarian stimulation and in vitro fertilization improves implantation, and pregnancy rates

Journal of Assisted Reproduction and Genetics — Wed, 17 Jun 2009 09:46:31 +0100

Conclusions Administration of D1-hCG prior to COH reduces rFSH use and enhances oocyte developmental competence to obtain top quality embryos, and improves implantation and on-going pregnancy rates. At present it is not clear if the benefit is related to producing an embryo that more likely to implant or a more receptive uterus, or merely fortuitous and related to the relatively small power of the study. Content Type Journal ArticleCategory ASSISTED REPRODUCTIONDOI 10.1007/s10815-009-9322-xAuthors Eduardo L. Motta, Huntington Center for Reproductive Medicine of Brazil Rua Joana Angelica, 228 Ipanema Rio de Janeiro 22420-030 BrazilGary D. Smith, University of Michigan Department of Obstetrics and Gynecology Ann Arbor MI USAPaulo C. Serafini, Huntington Center for Repr...

Caring in residential aged-care. Qualitative findings from an e-cohort sub-study

Journal of Clinical Nursing — Tue, 16 Jun 2009 23:00:00 +0100

Conclusion. The concept of caring is manifest in nurses' language as they describe their workplace, the residents, themselves and the structures that impact on what they do. Good caring manifests itself when the residents are central to the business of the aged care facility. However, nurses in this study describe a range of restrictive factors impeding caring practices and diminishing workforce morale and motivation to create environments that can truly be called a 'home-away-from-home' and one that all people would find acceptable.Relevance to clinical practice. These findings have implications for aged-care sector recruitment, retention and workforce planning within residential aged-care facilities. (Source: Journal of Clinical Nursing)

Why Huntington's Shows Up in Midlife

MedicineNet Alzheimer — Tue, 16 Jun 2009 07:00:00 +0100

Title: Why Huntington's Shows Up in MidlifeCategory: Health NewsCreated: 6/16/2009 7:00:00 AMLast Editorial Review: 6/16/2009 (Source: MedicineNet Alzheimer)

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[Biophysics_And_Computational_Biology] Distinct conformations of in vitro and in vivo amyloids of huntingtin-exon1 show different cytotoxicity

Proceedings of the National Academy of Sciences — Mon, 15 Jun 2009 23:00:00 +0100

A hallmark of polyglutamine diseases, including Huntington disease (HD), is the formation of β-sheet-rich aggregates, called amyloid, of causative proteins... (Source: Proceedings of the National Academy of Sciences)

Diet and lifestyle influences on risk of coronary heart disease

Current Atherosclerosis Reports — Mon, 15 Jun 2009 07:31:27 +0100

Abstract Coronary heart disease (CHD) stems from the interplay between genetic and environmental factors. However, modifiable environmental factors, especially diet and lifestyle, are largely responsible for increased risk of CHD at population levels. Although cigarette smoking, obesity, and physical inactivity are well-established causes of CHD, the role of specific dietary factors has not been clearly defined until more recently. Cumulative evidence indicates that types of fats and carbohydrates are more important than total amounts in determining risk of CHD. Epidemiologic and clinical trial data strongly support that dietary patterns rich in fruits, vegetables, whole grains, and nuts can reduce risk of CHD. Diet and lifestyle modification, combined with pharmacologic t...

Huntington's Disease Deciphered

Health News from Medical News Today — Mon, 15 Jun 2009 07:00:00 +0100

Researchers at the University of Illinois at Chicago College of Medicine have discovered how the mutated huntingtin gene acts on the nervous system to create the devastation of Huntington's disease. The report of their findings is available in Nature Neuroscience online. (Source: Health News from Medical News Today)

Huntington's disease deciphered

EurekAlert! - Medicine and Health — Sun, 14 Jun 2009 04:00:00 +0100

(University of Illinois at Chicago) Researchers at the University of Illinois at Chicago College of Medicine have discovered how the mutated Huntington gene acts on the nervous system to create the devastation of Huntington's disease. (Source: EurekAlert! - Medicine and Health)

Waiting For A Superstinky Flower To Bloom

NPR Health and Science — Fri, 12 Jun 2009 17:00:00 +0100

Botanists at the Huntington Library and Botanical Gardens in San Marino, Calif., are predicting that their rare and ultrasmelly "corpse flower" will bloom any day now. Botanical education manager Kitty Connolly describes the plant, and its somewhat unusual smell.» E-Mail This » Add to Del.icio.us (Source: NPR Health and Science)

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Risk Of Discrimination For Individuals With Family History Of Genetic Disease

Health News from Medical News Today — Fri, 12 Jun 2009 07:00:00 +0100

A research published on bmj.com reports that individuals with a family history of genetic disease are frequently discriminated by their relatives, friends and also by insurance companies. Many individuals have been able to adapt treatment and inform reproductive decisions thanks to the developments in genetic testing. (Source: Health News from Medical News Today)

Huntington's Disease - New Perspectives Based on Neuroendocrine Changes in Rodent Models.

Neuro-Degenerative Diseases — Thu, 11 Jun 2009 23:00:00 +0100

Authors: Petersén A, Hult S, Kirik D Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. Although it is characterized by progressive motor impairments, cognitive changes and psychiatric disturbances are major components of the disease. In addition, recent studies have shown that other non-motor symptoms such as alterations in sleep pattern, disruption of the circadian rhythm and increased energy metabolism are common and occur early. Emerging evidence suggests that the latter symptoms are likely results of disturbed functions of the hypothalamus and neuroendocrine circuits, which are known to be central in the regulation of emotion, sleep and metabolism. Whereas clinical data are essential to define key pathological fe...

Transmission Of Huntington's Disease To Offspring Among Male Carriers: Risk Estimated By Researchers

Health News from Medical News Today — Thu, 11 Jun 2009 08:00:00 +0100

Researchers from Boston University School of Medicine (BUSM) have quantified the probability of a male who carries a "high normal" variant of the Huntington's Disease (HD) gene having a child who develops the disease. Although thought to be a very rare event, the probability has never been estimated using current information and disease guidelines. (Source: Health News from Medical News Today)

2 Orange County nursing homes fined for patient deaths

L.A. Times - Health — Thu, 11 Jun 2009 07:00:00 +0100

Alamitos West Health Care Center in Los Alamitos and Huntington Valley Healthcare Center in Huntington Beach are penalized $100,000 and $80,000, respectively. State officials have fined two nursing homes in Orange County for providing care so inadequate that it led to the deaths of two patients. (Source: L.A. Times - Health)

Sex-Specific Therapeutic Strategies Based On Neuroactive Steroids: In Search For Innovative Tools For Neuroprotection.

Hormones and Behavior — Wed, 10 Jun 2009 23:00:00 +0100

Authors: Melcangi RC, Garcia-Segura LM Different pathologies of the central and peripheral nervous system show sex differences in their incidence, symptomatology and/or neurodegenerative outcome. These include Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple sclerosis, traumatic brain injury, stroke, autism, schizophrenia, depression, anxiety disorders, eating disorders and peripheral neuropathy. These sex differences call for the search for sex-specific neuroprotective strategies. This review article and other manuscripts published in this issue of Hormones and Behavior analyze possible sex-specific therapeutic strategies based on neuroactive steroids. In particular in our introductory article, the possibility that sex differences in the levels or in the action...

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Progressive imbalance in the interaction between spatial and procedural memory systems in the R6/2 mouse model of Huntington's disease.

Neurobiology of Learning and Memory — Wed, 10 Jun 2009 23:00:00 +0100

Authors: Ciamei A, Morton AJ When Huntington's disease (HD) patients are tested on cognitive tasks that involve both striatal and hippocampal memory systems, a decline in their striatal function is compensated for by an increase in hippocampal activity that allows these patients to achieve an optimal performance (Voermans et al., 2004). Our recent study suggests that there is also an imbalance between hippocampal and striatal memory systems in R6/2 mice, a widely used animal model of HD (Ciamei and Morton, 2008). However, interactions between multiple memory systems have never been studied directly in HD mice. Here, we used a water maze task to examine striatal and hippocampal systems directly. R6/2 mice were trained to swim from a fixed starting point to a cued platform. During the pr...

Neurogenetics: Huntington's toxic trigger

Nature — Wed, 10 Jun 2009 04:00:00 +0100

Nature 459, 754 (2009). doi:10.1038/459754f Science324, 1327–1330 (2009) 10.1126/science.1172871Uncontrolled movements are symptomatic of Huntington's disease, which is caused by mutation of the huntingtin gene. Mutant huntingtin protein (mHtt) is expressed throughout the bodies of carriers, but mHtt-associated cell death occurs selectively in (Source: Nature)

Researchers estimate risk of transmission of Huntington's disease to offspring among male carriers

EurekAlert! - Medicine and Health — Tue, 09 Jun 2009 04:00:00 +0100

(Boston University Medical Center) Researchers from Boston University School of Medicine have quantified the probability of a male who carries a "high normal" variant of the Huntington's disease gene having a child who develops the disease. Although thought to be a very rare event, the probability has never been estimated using current information and disease guidelines. The findings, appear online in the American Journal of Medical Genetics, may be useful during prenatal genetic counseling. (Source: EurekAlert! - Medicine and Health)

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)

American Journal of Medical Genetics Part A — Mon, 08 Jun 2009 04:00:00 +0100

Huntington disease (HD) is a dominantly transmitted neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4p16.3. CAG repeat allele lengths are defined as fully penetrant at [ge]40, reduced penetrance at 36-39, high normal at 27-35, and normal at [le]26. Fathers, but not mothers, with high normal alleles are at risk of transmitting potentially penetrant HD alleles ([ge]36) to offspring. We estimated the conditional probability of an offspring inheriting an expanded penetrant allele given a father with a high normal allele by applying probability definitions and rules to estimates of HD incidence, paternal birth rate, frequency of de novo HD, and frequency of high normal alleles in the general population. The estimated probability that a male high...

Huntington`s disease breakthrough

Pharmacy Europe — Sun, 07 Jun 2009 18:23:08 +0100

The discovery that two proteins combine to cause the incurable Huntington's disease may have paved the way for more targeted drug therapies (Source: Pharmacy Europe)

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Discovery Of Tiny Protein-Activator Responsible For Brain Cell Damage In Huntington Disease

Health News from Medical News Today — Sat, 06 Jun 2009 07:00:00 +0100

Johns Hopkins brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington's disease (HD), but only kills cells in the part of the brain that controls movement, causing negligible damage to tissues elsewhere. (Source: Health News from Medical News Today)

Rhes-olving Huntington's Disease?

This Week in Science — Fri, 05 Jun 2009 21:21:23 +0100

Huntington's disease (HD) is caused by a single dominant mutation of huntingtin (Htt), a protein that occurs in all tissues of the body and that is uniformly distributed throughout the … [Read more] (Source: This Week in Science)

Mystery Solved: Johns Hopkins Scientists Say Tiny Protein-Activator Responsible for Brain Cell Damage in Huntington Disease- 6/4/09

Johns Hopkins Medicine News — Fri, 05 Jun 2009 16:47:07 +0100

Johns Hopkins brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington’s disease (HD), but only kills cells in the part of the brain that controls movement, causing negligible damage to tissues elsewhere. (Source: Johns Hopkins Medicine News)

Mystery Solved: Tiny Protein-activator Responsible For Brain Cell Damage In Huntington Disease

ScienceDaily Headlines — Fri, 05 Jun 2009 12:00:00 +0100

Brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington's disease, but only kills cells in the part of the brain that controls movement, causing negligible damage to tissues elsewhere. (Source: ScienceDaily Headlines)

Scientists solve mystery behind Huntington's brain destruction

OrlandoSentinel: Medical Research — Fri, 05 Jun 2009 10:23:00 +0100

WASHINGTON (AP) — Scientists have solved a mystery surrounding a horrific illness: Why people with Huntington's disease harbor a faulty protein throughout their bodies but it destroys only certain brain cells. The discovery may provide a long-... (Source: OrlandoSentinel: Medical Research)

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Scientists uncover culprit in Huntington's disease

OrlandoSentinel: Medical Research — Thu, 04 Jun 2009 22:31:00 +0100

WASHINGTON -- Scientists have solved a mystery surrounding a horrific illness: Why people with Huntington's disease harbor a faulty protein throughout their bodies but it destroys only certain brain cells. The discovery may provide a long-awaited... (Source: OrlandoSentinel: Medical Research)

Study identifies key protein linked to brain damage in Huntington's

CBC | Health — Thu, 04 Jun 2009 20:45:56 +0100

The location of a faulty protein seems to explain the pattern of brain damage and symptoms of people with Huntington's disease, researchers say. (Source: CBC | Health)

Scientists uncover culprit in Huntington's disease

CTV Health — Thu, 04 Jun 2009 19:25:43 +0100

Scientists have solved a mystery surrounding a horrific illness: Why people with Huntington's disease harbor a faulty protein throughout their bodies but it destroys only certain brain cells. (Source: CTV Health)

Scientists solve mystery behind Huntington's brain destruction, a clue toward long-needed care

OrlandoSentinel: Medical Research — Thu, 04 Jun 2009 15:00:00 +0100

This Week in Science

Science: Current Issue — Thu, 04 Jun 2009 04:00:00 +0100

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Wheel running and environmental enrichment differentially modify exon-specific BDNF expression in the hippocampus of wild-type and pre-motor symptomatic male and female Huntington's disease mice

Hippocampus — Thu, 04 Jun 2009 04:00:00 +0100

Brain-derived neurotrophic factor (BDNF) is an essential neurotrophin and regulation of its expression is complex due to multiple 5[prime] untranslated exons which are separately spliced to a common coding exon to form unique mRNA transcripts. Disruption of BDNF gene expression is a key to the development of symptoms in Huntington's disease (HD), a fatal neurodegenerative condition. Abnormal epigenetic modifications are associated with reduced gene expression in late-stage HD but such regulation of BDNF gene expression has yet to be investigated. We hypothesized that BDNF gene expression is altered in the HD hippocampus of pre-motor symptomatic R6/1 transgenic HD mice, correlating with a change in the DNA methylation profile. The effects of wheel-running and environmental enrichment on wil...

Developmental Screening: Is There Enough Time?

Clinical Pediatrics — Thu, 04 Jun 2009 04:00:00 +0100

Conclusions. The perceived obstacle that routine screening requires more time than pediatricians have should not prevent its adoption. Screening tools may empower some parents otherwise reluctant to raise concerns unsolicited. (Source: Clinical Pediatrics)

Development of a Method for the High-Throughput Quantification of Cellular Proteins.

Chembiochem — Mon, 01 Jun 2009 23:00:00 +0100

This study describes an assay for the detection of the intracellular mutant huntingtin, the causative agent of Huntington's disease, with a method that may be generally applicable to other cellular proteins. A small recombinant protein tag that is recognized by a pair of readily available, high-affinity monoclonal antibodies was designed. This tag was then added to an inducible fragment of the mutant huntingtin protein by genetic engineering. We show that it is possible to use time-resolved FRET to detect low intracellular levels of huntingtin by a simple lysis and detection procedure. This assay was then adapted into a homogeneous, miniaturized format suitable for screening in 1536-well plates. The use of time-resolved FRET also permits the assay to be multiplexed with a standard readout ...

Preventing Falls in Hospitalized Patients on Isolation Precautions

American Journal of Infection Control — Mon, 01 Jun 2009 04:00:00 +0100

Judith A. Moran, RN, CNA, DNSc, BC, Director of Nursing, Huntington Hospital, Huntington, NY Purpose: The purpose of this evidence-based nursing project was to describe the effect of Family-Centered Care on the prevention of falls in hospitalized patients on isolation precautions. (Source: American Journal of Infection Control)