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Ataxia: a problematic disease's gene deciphered

by Medindia Content Team on  January 23, 2006 at 7:57 PM Research News   - G J E 4
Ataxia: a problematic disease's gene deciphered
University of Minnesota Medical School researchers have reason to cheer.

A novel discovery which could affect history has been made at the location.
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A gene responsible for a type of ataxia has been deciphered.

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Ataxia is an incurable degenerative brain disease affecting movement and coordination. A first with this neurodegenerative disease is its nature that it is caused by mutations in the protein, -III spectrin which plays an important role in the maintaining the health of nerve cells.

As mentioned about its historical implication, it has been discovered in an individual who happens to be 11-generation family descended from the grandparents of President Abraham Lincoln. The scientific implication could be that the President had a 25 percent risk of inheriting the mutation.

According to Laura Ranum, Ph.D., senior investigator of the study and professor of Genetics, Cell Biology and Development at the University of Minnesota, "We are excited about this discovery because it provides a genetic test that will lead to improved patient diagnoses and gives us new insight into the causes of ataxia and other neurodegenerative diseases, an important step towards developing an effective treatment.".

There is loss of coordination resulting in difficulty with everyday tasks such as walking, speech, and writing in Ataxia and 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. 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.

"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.", was what Ranum had to add.

The sampling for the study was made by examining and collecting DNA samples from more than 300 Lincoln family members who live across the country, tracking descendants from two major branches of the family.

So this is a study with scientific as well as historical implications rolled in one!
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