HOME >> BIOLOGY >> NEWS
New gene for rare inherited paralysis may aid other spinal cord research, too

ANN ARBOR, MI A single mutation in a single gene is enough to slowly rob people of their ability to walk, scientists from the University of Michigan and the University of Pennsylvania report today.

And while the inherited defect itself is rare, its discovery may help researchers unravel the mysteries of much more common paralyzing conditions, from spinal cord injury to Lou Gehrig's disease.

In a paper published online today in the American Journal of Human Genetics, and scheduled for the journal's October issue, the U-M and Penn team describes a new gene, called NIPA1, for a form of hereditary spastic paraplegia, or HSP.

HSP is the name given to a group of disorders affecting about 20,000 Americans. HSP gradually disables its victims as long nerve cells in the spinal cord degenerate and muscles weaken and become spastic. It is often misdiagnosed as other nerve disorders, including multiple sclerosis, cerebral palsy, and amyotrophic lateral sclerosis (also called Lou Gehrig's disease).

There is no cure for HSP, which is also sometimes called familial spastic paraparesis or Strumpell-Lorain disease. Treatment is limited to physical therapy and exercise to help retain as much muscle function as possible, drug treatment to tame spastic muscle movements, and medication to treat patients' bladder and bowel control problems, and depression.

"There are direct overlaps between this group of diseases and the nerve degeneration processes in other disorders," says senior author John Fink, M.D., professor of neurology at the University of Michigan Medical School, who has devoted his career to studying and treating HSP and related conditions. "Not only do we hope this discovery will aid HSP patients, but we also believe it will aid in understanding and perhaps stopping the fundamental processes involved in other types of spinal cord degeneration."

The newly described gene mutation on chromosome 15 causes a form of HSP that start
'"/>

Contact: Kara Gavin
kegavin@umich.edu
734-764-2220
University of Michigan Health System
25-Sep-2003


Page: 1 2 3 4

Related biology news :

1. New genetic research demonstrates possible cause of inherited form of Parkinsons disease
2. Research on inherited eye disorders uncovers new information about blood-vessel formation
3. Childhood brain tumors associated with rarely inherited BRCA2 gene mutations
4. Gene mutation exacerbates eye defect in inherited glaucoma
5. Researchers pinpoint cause of inherited form of heart failure
6. Molecular clues to an inherited epilepsy
7. Gene therapy breakthrough offers hope to patients with inherited high cholesterol levels
8. Dog model for studying inherited human blindness
9. Discovery that common mood disorders are inherited together may reveal genetic underpinnings
10. Scientists discover "missing link" between rare disease and inherited forms of breast cancer
11. Mutations in the ABCR gene are an overwhelming cause of inherited vision loss

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/3/2017)... , April 3, 2017  Data ... precision engineering platform, detected a statistically significant ... product prior to treatment and objective response ... the potential to predict whether cancer patients ... to treatment, as well as to improve ...
(Date:3/29/2017)... the health IT company that operates the largest health ... today announced a Series B investment from BlueCross BlueShield ... investment and acquisition accelerates higi,s strategy to create the ... activities through the collection and workflow integration of ambient ... secures data today on behalf of over 36 million ...
(Date:3/24/2017)... , Mar 24, 2017 Research and ... Access System Market Analysis & Trends - Industry Forecast to 2025" ... ... to grow at a CAGR of around 15.1% over the next ... This industry report analyzes the market estimates and forecasts for all ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... CALIF. (PRWEB) , ... October 10, 2017 , ... San ... part of its corporate rebranding initiative announced today. The bold new look is ... reach, as the company moves into a significant growth period. , It will also ...
(Date:10/10/2017)... ... 2017 , ... For the second time in three years, ... Award. Representatives of the FirstHand program travelled to Washington, D.C. Tuesday, October 10th, ... mission is to change the trajectory of STEM education in America by dramatically ...
(Date:10/10/2017)... Parks Associates announced today that Tom Kerber , Director ... , October 11 in Scottsdale, Arizona . Kerber will ... safety and security products impact the competitive landscape. ... Parks Associates: Smart Home Devices: Main Purchase Driver ... "The residential security market has experienced continued growth, and the introduction of ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... optimization firm for the life sciences and healthcare industries, announces a presentation by ... Francisco. , The presentation, “Automating GxP Validation for Agile Cloud Platforms,” will present ...
Breaking Biology Technology:
Cached News: