Gene Identified

The Gene Causing the Deater Disease Is Identified!
Important Research Results Published
Ellen Burns, Vice President and Medical Liaison

In the March 2001 edition, Volume 27, of the prestigious scientific journal Nature Genetics, two articles were published that were the culmination of years of research involving the Deater family and other families with a degenerative neurologic disease.

One article, Mutations in SPLTC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I, was submitted by Jennifer Dawkins and her team at the Neurobiology Laboratory of University of Sydney, New South Wales, Australia, under the leadership of Garth Nicholson. For some years, now, this Australian group has been collaborating with the research group from the Day Neuromuscular Laboratory in Charlestown, Massachusetts to find the exact gene that causes the disease that affects the Deater family. This disease is known in medical circles as HSN I (Hereditary Sensory Neuropathy type I). In fact, some medical textbooks and research articles specifically refer to earlier published research on our family.

In the Nature Genetics article, the Australian researchers identify the specific gene, SPTLC1, on chromosome 9 (more specifically: 9q22.3), that is mutated, or different, in people who have HSN1. These researchers studied 11 families and found three different mutations in the gene, among all the affected family members.

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