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HSAN 1: Identification of new mutations, more accurate diagnosis and improved genetic counseling
Date:10/8/2010

Antwerp, Belgium October 8, 2010 VIB researchers at the University of Antwerp have identified several mutations that play an important role in the development of Hereditary Sensory and Autonomous Neuropathy Type 1 (HSAN 1). HSAN 1 is a rare genetic disorder of the peripheral nervous system. Identification of the mutations will lead to a more accurate diagnosis of the disease in patients as well as improved genetic counseling and prenatal diagnostic tests for couples who are carriers and planning a pregnancy.

HSAN

Hereditary Sensory and Autonomous Neuropathy (HSAN) refers to a group of hereditary disorders of the peripheral nervous system. HSAN primarily affects the sensory nerves, leading to a loss of feeling in the hands and feet. However, it can also affect the autonomous nerves, which are responsible for such functions as blood pressure control and sweat production.

The course of the illness in HSAN patients varies greatly and is divided into six subtypes. The symptoms of HSAN 1 appear during adolescence or adulthood. In addition to pronounced sensory disturbances, patients may also suffer to a certain extent from muscle weakness and atrophy of the feet, hands and lower legs due to damage of the motor nerves.

SPTLC2

Genetically speaking, HSAN is extremely heterogeneous. To-date mutations in nine different genes have been described, but studies have shown that there are other HSAN-causing genes remaining to be discovered. Annelies Rotthier and her colleagues conducted a DNA study on 78 HSAN patients under the leadership of Vincent Timmerman and in collaboration with researchers in other countries. They looked for mutations in the second subunit of palmitoyltransferase (SPTLC2) protein. Three different mutations in four patients were identified.

Based on what they observed in both cells from patients and genetically modified yeast cells, the researchers were able to demonstrate that the iden
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Contact: Evy Vierstraete
info@vib.be
329-244-6611
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

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