The Family Man
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PROVIDER: S-EPMC1410907 | biostudies-literature | 2006 Mar
REPOSITORIES: biostudies-literature
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Project description:Huntington disease (HD) is a progressive neurodegenerative disease that affects 30,000 individuals in North America. Treatments that slow its relentless course are not yet available, and biomarkers that can reliably measure disease activity and therapeutic response are urgently needed to facilitate their development. Here, we interrogated 119 human blood samples for transcripts associated with HD. We found that the dynamic regulator of chromatin plasticity H2A histone family, member Y (H2AFY) is specifically overexpressed in the blood and frontal cortex of patients with HD compared with controls. This association precedes the onset of clinical symptoms, was confirmed in two mouse models, and was independently replicated in cross-sectional and longitudinal clinical studies comprising 142 participants. A histone deacetylase inhibitor that suppresses neurodegeneration in animal models reduces H2AFY levels in a randomized phase II clinical trial. This study identifies the chromatin regulator H2AFY as a potential biomarker associated with disease activity and pharmacodynamic response that may become useful for enabling disease-modifying therapeutics for HD.
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Project description:Until quite recently it was possible to give only highly tentative opinions on the role of liver transplantation in the treatment of patients dying of incurable liver disease. Now, a much more authoritative position concerning clinical liver transplantation can be taken, since there have been six patients who have lived for more than a year after removal of their own diseased livers and replacement with cadaveric organs.The mortality has been high, just as it was in the first trials with renal transplantation. Nevertheless, we believe that the future role of liver transplantation in hepatic disease will not be fundamentally different than cadaveric kidney transplantation in the field of renal disease. In this paper we will give the justification for this optimistic view, mention the indications for such operations as they have become clear in the last year and, above all, focus attention upon the errors in technique or judgment we have made which have accounted for most of the early deaths in our experience.
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