Navigation Links
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 identified 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.


'/>"/>

Contact: Evy Vierstraete
info@vib.be
329-244-6611
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

Related biology technology :

1. SACHEM Launches 2-D HPLC e-Learning Program : New e-Learning Program Teaches Scientists How to Better Analyze and Prove Product Purity Through Greater Sensitivity and Precision in Identification of Trace Components
2. BIO-key(R) Biometric Identification Solution Deployed by McKesson
3. Isis Ibis Biosciences Subsidiary Highlights the Power of the Ibis T5000 Pathogen Identification and Characterization System at the ICAAC/IDSA Meeting
4. Microtest Labs Offers Free Microbial Identification Testing, Free Shipping on Other Tests, to MD&M West Attendees
5. Meso Scale Diagnostics Point of Care Influenza Test Led to the First Identification of A(H1N1) Swine Flu Infection
6. SmartGenes Services for Faster, More Precise Identification of Bacteria and Fungi to be Used by The Johns Hopkins Hospital
7. Transgenomic and Power3 Medical Report Identification of Abnormal Serum Proteins in Parkinsons Disease
8. ZyGEM Releases Data Confirming its prepGEM(R) Insect Kit is a Simple, Rapid Method for Extracting Insect DNA for Species Identification
9. New AccuPRO-ID™ Microbial Identification Testing Service
10. IntegenX Awarded DTRA Contract to Develop Pathogen Detection and Identification Platform
11. Valley Baptist Health System Selects Concuitys ClearContracts to More Accurately Calculate Payments from Managed Care and Government Payers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/25/2016)... (PRWEB) , ... May 25, 2016 , ... Lady had ... she tore her cruciate ligament in her left knee. Lady’s owner Hannah sought the ... central Florida board-certified veterinary surgeon, to repair her cruciate ligament and help with the ...
(Date:5/24/2016)... ... May 24, 2016 , ... Media ... The new Media Cybernetics corporate branding reflects a results-driven revitalization for a company ... analysis. The re-branding components include a crisp, refreshed logo and a new web ...
(Date:5/23/2016)... and LONDON , May 23, 2016 ... Could See Frontage Boost Efficiency by 40% - Frontage ... - Frontage Enforce Quality, Compliance and Traceability Within the Bioanalytical ... with labs in the United States and ... to be deployed across its laboratory facilities. In addition to ...
(Date:5/20/2016)... ... May 20, 2016 , ... Kablooe Design, a leading provider of product ... official 25th anniversary of the business. “We have worked hard to build long-term relationships,” ... for the privilege and honor of serving their product design and development needs through ...
Breaking Biology Technology:
(Date:4/13/2016)... 2016  IMPOWER physicians supporting Medicaid patients in ... clinical standard in telehealth thanks to a new partnership ... platform, IMPOWER patients can routinely track key health measurements, ... index, and, when they opt in, share them with ... a local retail location at no cost. By leveraging ...
(Date:3/22/2016)... , March 22, 2016 ... report "Electronic Sensors Market for Consumer Industry by Type ... Others), Application (Communication & IT, Entertainment, Home ... Global Forecast to 2022", published by MarketsandMarkets, ... expected to reach USD 26.76 Billion by ...
(Date:3/15/2016)... , March 15, 2016 ... report published by Transparency Market Research "Digital Door Lock Systems ... Forecast 2015 - 2023," the global digital door lock systems ... Mn in 2014 and is forecast to grow at a ... of micro, small and medium enterprises (MSMEs) across the world ...
Breaking Biology News(10 mins):