Zoghbi awarded HHMI Collaborative Innovation Award BCM News, TX - Nov 20, 2008 Research will begin by focusing on spinocerebellar ataxia type 1, a neurodegenerative disease caused by the buildup of the protein ataxin-1. ...
Roy Peardon, 86, served in Merchant Marine during WWII Atlanta Journal Constitution, USA - Nov 8, 2008 Mr. Peardon, 86, died at his home in Marietta Thursday of a rare, late-onset genetic disease called spinocerebellar ataxia. The funeral will be 11 am Monday ...
Alzheimer?s Genome Project Discovers New Risk Genes. Will New ... Pharmacogenomics Reporter (registration), NY - Nov 5, 2008 Mutations in ATXN1 cause another neurodegenerative disease called spinocerebellar ataxia, in which the cerebellum, brain stem, and spinal cord progressively ...
Sickening results Baltimore Examiner, MD - Nov 20, 2008 A civilian neurologist diagnosed her disease as sporadic spinocerebellar ataxia, which occurs when various parts of the nervous system that control movement ...
Four new suspect genes behind Alzheimer?s disease identified Entertainment and Showbiz!, India - Nov 5, 2008 The second identified markers is in a gene known to cause spinocerebellar ataxia, a movement disorder that involves the death of nerve cells in other parts ...
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Recent News and Articles on the Keywords: spectrin mutations + mutations + 0.26 Related to the article below (Last Update: 8/7/2008)
A breakdown of symmetry in the folding transition state of protein L - DE Kim, C Fisher, D Baker - Journal of Molecular Biology, 2000 - Elsevier ... T48A has an intermediate value of 0.26. ... The detailed effects of the mutations in
the hairpin are ... transition state ensemble is observed for spectrin SH3 (Serrano ...
Important region in the ?-spectrin C-terminus for spectrin tetramer formation - BH Luo, S Mehboob, MG Hurtuk, NH Pipalia, LWM Fung - European Journal Of Haematology, 2002 - Blackwell Synergy ... lane 8), with an R f value of 0.26. ... Natural mutations at positions 2061 and 2069
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Solvation in protein folding analysis: Combination of theoretical and experimental approaches - AM Fernandez-Escamilla - Proceedings of the National Academy of Sciences, 2004 - National Acad Sciences ... 0.37 0.04 1.02 0.02 0.13 0.15 0.89 0.15 1.15 0.26... a loop, thus not interfering with
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Spinocerebellar ataxia type 5 caused by mutations in the protein beta-III spectrin
Researchers at the University of Minnesota Medical School have discovered the gene responsible for a type of ataxia, an incurable degenerative brain disease affecting movement and coordination.
This is the first neurodegenerative disease shown to be caused by mutations in the protein beta-III spectrin which plays an important role in the maintaining the health of nerve cells.
The scientific discovery has historical implications as well -- the gene was identified in an 11-generation family descended from the grandparents of President Abraham Lincoln, with the President having a 25 percent risk of inheriting the mutation.
Understanding the effects of this abnormal protein, which provides internal structure to cells, will clarify how nerve cells die and may provide insight into other diseases, including amyotrophic lateral sclerosis ( Lou Gehrig's disease ) and Duchenne muscular dystrophy.
The research is published in the Nature Genetics.
Ataxia is a hereditary disease that causes loss of coordination resulting in difficulty with everyday tasks such as walking, speech, and writing. About 1 in 17,000 people have a genetic form of ataxia.
Spinocerebellar ataxia type 5 ( SCA5 ) is a dominant gene disorder; if a parent has the disease, each of their children has a 50 percent chance of inheriting the mutation and developing ataxia sometime during their lifetime. The onset of SCA5 usually occurs between the ages of 30 and 50, but can appear earlier or later in life, with reported ages of onset ranging from 4 to more than 70 years of age.
Now that researchers have identified the specific mutation that causes SCA5, testing of patients at risk of developing this disease is possible before any symptoms appear. The availability of predictive testing allows people with a family history of the disease to determine whether they will develop the disease and whether their children are at risk of inheriting the mutation. In addition, the prognoses of the different types of ataxias vary greatly, so identifying the specific type of ataxia provides patients with a more accurate picture of what the future holds.
Laura Ranum, senior investigator added: " Finding the SCA5 mutation in Lincoln's family makes it possible to test Lincoln's DNA – if it becomes available – to unequivocally determine if he carried the mutation and had or would have developed the disease." Biographical texts of Lincoln include descriptions of his uncoordinated and uneven gait, suggesting the possibility that he showed early features of the disease.
