New gene for rare inherited paralysis may aid other spinal cord res...( s in adulthood and is passed on in fam...)

The discovery of the mutation was made with the help of two families affected by the disease: one, of Iraqi origin living in Michigan, and the other of Irish descent, living in Arkansas. Affected and unaffected members of both families allowed their DNA to be studied and compared with DNA samples from people without HSP.

The single-nucleotide mutation alters the structure of a protein that the researchers think resides in nerve cell membranes, a feature that may expedite the development of tests and therapies. In addition to further research on the protein's exact function, this gene discovery could be used to develop a genetic test to help give HSP patients and their families a firm diagnosis and genetic counseling. A provisional patent application has been filed jointly by the U-M and Penn.

The U-M team has previously found other genes involved in HSP, including a mutation responsible for a form of HSP that develops in early childhood and may resemble familial cerebral palsy.

That discovery, of a gene on chromosome 14 that encodes a protein called atlastin, has already yielded a diagnostic test that can give patients a firm diagnosis to tell them if they have or might some day develop that form of HSP. It can also help couples whose family or medical history suggests they might be at risk of passing a dominant form of HSP on to their children; in dominant HSP families, there is a 50 percent risk that each child will develop the condition.

Developed by Athena Diagnostics, which licensed U-M's patent on the atlastin gene, the test also screens for a form of HSP found by French scientists, based on a gene for a protein called spastin.
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Contact: Kara Gavin
kegavin@umich.edu
734-764-2220
University of Michigan Health System
25-Sep-2003