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Last updated on April 18, 2014 at 15:44 EDT

Latest Trinucleotide repeat disorder Stories

2014-02-20 14:57:31

At 58th Biophysical Society Meeting, researchers from Stanford University try to tease out why a lengthened protein leads to Huntington's disease Proteins are the workhorses of the cell, and their correctly folded three-dimensional structures are critical to cellular functions. Misfolded structures often fail to properly perform these vital jobs, leading to cellular stress and devastating neurodegenerative disorders such as Alzheimer's, Parkinson's and Huntington's disease. In...

2013-06-10 11:17:57

First in vivo study of the treatment for this condition shows significant physical improvement The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination of gait, and poor co-ordination of hands, speech and eye movements, due to a failure of co-ordination of muscle movements. Now researchers from France and the US have found...

2013-02-13 14:56:53

A new test may help to streamline genetic testing for Huntington Disease (HD) by generating accurate results, avoiding unnecessary additional testing, and improving turnaround time. The test, which uses chimeric or triplet repeat primed PCR (TP PCR) methodology, yielded results that were 100% concordant with standard genotyping methods in an analysis of 246 samples. The high sensitivity and specificity of the test could reduce the number of false negative results and facilitate both diagnosis...

Genes Associated With Genomic Expansions That Cause Disease Identified
2012-09-10 11:49:17

Examining trinucleotide repeats A study of more than 6,000 genes in a common species of yeast has identified the pathways that govern the instability of GAA/TTC repeats. In humans, the expansions of these repeats is known to inactivate a gene — FXN — which leads to Friedreich's ataxia, a neurodegenerative disease that is currently incurable. In yeast, long repeats also destabilize the genome, manifested by the breakage of chromosomes. Working with collaborators at Tufts...

2012-06-29 06:15:57

(Ivanhoe Newswire) -- Using a human induced pluripotent stem cell (iPSC) from a patient suffering from Huntington´s disease, researchers at the Buck Institute for Research on Aging have corrected the genetic mutation that is responsible for the disease. To accomplish this process, researchers took the diseased iPSCs, made the genetic correction, generated neural stem cells, and then transplanted the mutation-free cells into a mouse model of Huntington´s disease where they are...

2012-06-28 22:17:46

Corrected cells are generating normal neurons in mouse model of the disease Researchers at the Buck Institute for Research on Aging have corrected the genetic mutation responsible for Huntington's Disease (HD) using a human induced pluripotent stem cell (iPSC) that came from a patient suffering from the incurable, inherited neurodegenerative disorder. Scientists took the diseased iPSCs, made the genetic correction, generated neural stem cells and then transplanted the mutation-free cells...

2012-06-19 11:23:40

In Huntington's disease, abnormally long strands of glutamine in the huntingtin (Htt) protein, called polyglutamines, cause subtle changes in cellular functions that lead to neurodegeneration and death. Studies have shown that the activation of the heat shock response, a cellular reaction to stress, doesn't work properly in Huntington's disease. In their research to understand the effects of mutant Htt on the master regulator of the heat shock response, HSF1, researchers have discovered that...

2012-05-08 09:20:27

Mayo Clinic and University of Oregon researchers have confirmed that a genetic factor called a repeating trinucleotide is a strong predictor of an individual's risk of developing the eye condition Fuchs' dystrophy. The findings were being presented today at the annual conference of the Association for Research in Vision and Ophthalmology in Orlando, Fla. Fuchs' dystrophy is an eye condition that occurs when the cells at the back of the cornea deteriorate, causing fluid buildup resulting in...

Huntington’s Disease May Lower Risk Of Cancer
2012-04-14 05:53:30

A Swedish study has shown that people with Huntington´s disease may have protection from cancer. The study also suggests there may be a genetic mechanism in diseases such as Huntington´s capable of fighting off cancer cells. Huntington´s is a debilitating brain condition and belongs to a group of illnesses known as polyglutamine (polyQ) diseases. These diseases are rare and all share a common genetic trait, which causes the repetition of certain genetic elements. This...

2011-09-08 14:53:00

U-M researchers found dysfunction in neurons of mice with Spinocerebellar Ataxia type 3, findings could be relevant to broader range of ataxias ANN ARBOR, Mich., Sept. 8, 2011 /PRNewswire-USNewswire/ -- An abnormality discovered by U-M researchers in mice with Spinocerebellar Ataxia type 3 could represent a target for therapy. In a paper published this week in the Journal of Neuroscience, U-M researchers found that a particular dysfunction in neurons occurs well before the death of...