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

tified mutations led to decreased activity of the SPT enzyme. The mutated enzyme also proved to result in an accumulation of toxic molecules in the cell. Future research will determine whether lowering the concentration of these toxic molecules could serve as a therapy for HSAN patients.

Significance of discovery

The significance of these findings is twofold. First and foremost, the discovery of mutations in another gene is important for HSAN patients, since they can now be screened for SPTLC2 mutations. This will improve diagnostic accuracy, which is important for evaluating the prognosis of the patient, as well as facilitate genetic counseling and prenatal diagnosis.

These results also contribute to our understanding of the activity of the peripheral nervous system in both sick and healthy people. Although HSAN is rare, the disease mechanisms that have been uncovered by this study could be of major significance for other disorders of the peripheral nervous system, such as the neuropathies associated with diabetes and chemotherapy. The latter may occur much more frequently than HSAN but their underlying disease mechanisms are still largely unknown.


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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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