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

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Genomics 101

Genomics 101
Submitted by: Ellen Burns–Vice President

In dearly every cell of every living organism, there exists a complete set of instructions for creating that organism and regulating its cellular structures and activities over its lifetime. That set of instructions is called a genome.

A genome is organized into distinct, microscopic units called chromosomes. Chromosomes are coiled threads of deoxyribonucleic acid–DNA–that is composed of two long chains of nucleotides bound together in pairs to form a double helix. (A nucleotide is one of the building blocks of nucleic acids, such as DNA. A nucleotide is made up of three parts: a base, a sugar, and a phosphate. The bases lie flat like steps of a staircase. The sugar and phosphate form the backbone of the nucleic acid. DNA is composed of four different kinds of nucleotide.)

Three and a half billion of these nucleotide pairs make up the human genome.

Specific sequences of nucleotide bases within a DNA strand–called genes–are the cells’ instructions for producing proteins. Scientists estimate that 80,000 to 100,000 of these basic units of heredity exist within the human genome. Proteins perform a wide variety of physiological tasks. They facilitate processes such as digestion, breathing, immune responses,

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