Featured Research

from universities, journals, and other organizations

Genetic Basis Of Alexander Disease Discovered

Date:
January 3, 2001
Source:
University Of Wisconsin-Madison
Summary:
Scientists have pinpointed the gene responsible for a rare and devastating childhood brain disorder called Alexander disease, solving a 50-year-old mystery regarding its cause.

MADISON - Scientists have pinpointed the gene responsible for a rare and devastating childhood brain disorder called Alexander disease, solving a 50-year-old mystery regarding its cause.

Reporting in the January 3 issue of the journal Nature Genetics, a team led by University of Wisconsin-Madison researcher Albee Messing made the discovery after a genetic analysis of 13 cases of the disease. Because of the rarity of the disease, it took nearly two years to assemble enough cases from international sources to complete the study.

Alexander disease is in a family of disorders called leukodystrophies in which abnormalities arise in the myelin sheath, a protective insulation that covers nerves. It often strikes infants before their first year of age and causes catastrophic damage throughout the nervous system. Most children do not survive past age 6.

While genetics were always presumed to be the cause, confirming the hunch would have been impossible without an unexpected break several years ago in Messing's lab. Messing and collaborator Michael Brenner of the University of Alabama-Birmingham developed a transgenic mouse that coincidentally exhibited the hallmark traits of Alexander disease, which narrowed the field for finding the responsible gene.

The Nature Genetics paper confirmed that mutations in a gene called GFAP - or glial fibrillary acidic protein - are associated with nearly all cases of Alexander disease. Messing said the mutation triggers production of an abnormal protein, which causes a buildup of fibers that damage the nervous system.

"Finding this gene would have been a shot in the dark without that initial discovery," said Messing. "GFAP is a very well-known and widely studied protein among neuroscientists, because it's the identifying feature of astrocytes."

Astrocytes are one of the major cell types in all vertebrate nervous systems that maintain the function of neurons and their myelin sheaths. Scientists already know that GFAP proteins increase when spinal or brain injuries occur, but are not sure why. "This is going to open the door to understanding how astrocytes respond to disease or injury," he said.

Identifying the genetic cause gives researchers a starting point, but possible treatments are likely well in the future, Messing said. "I think parents who have had children with Alexander disease will be relieved by finally knowing its cause," he said. "It's such a rare disorder that they have felt very isolated, thinking that no one was working to find answers."

Other disorders that involve "protein aggregation" - or excess protein buildup that damages nerve function - include Alzheimer's and Parkinson's disease. Messing said scientists do not know whether these aggregations are a byproduct or a cause of the disease, or whether the process can be short-circuited with treatment.

The research is supported by the National Institutes of Health. Messing is a professor of pathobiological sciences at UW-Madison's School of Veterinary Medicine, and a researcher with the Waisman Center, which focuses on childhood developmental disorders.

A number of collaborators in addition to Brenner were important to the project, including: Anne B. Johnson at Albert Einstein College of Medicine in New York; Odile Boespflug-Tanguay of the Clermont-Ferrand Medical School in France; Diana Rodriguez of St. Vincent de Paul Hospital in Paris; and James Goldman of Columbia University.


Story Source:

The above story is based on materials provided by University Of Wisconsin-Madison. Note: Materials may be edited for content and length.


Cite This Page:

University Of Wisconsin-Madison. "Genetic Basis Of Alexander Disease Discovered." ScienceDaily. ScienceDaily, 3 January 2001. <www.sciencedaily.com/releases/2001/01/010103072819.htm>.
University Of Wisconsin-Madison. (2001, January 3). Genetic Basis Of Alexander Disease Discovered. ScienceDaily. Retrieved July 31, 2014 from www.sciencedaily.com/releases/2001/01/010103072819.htm
University Of Wisconsin-Madison. "Genetic Basis Of Alexander Disease Discovered." ScienceDaily. www.sciencedaily.com/releases/2001/01/010103072819.htm (accessed July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

House Republicans Vote to Sue Obama Over Healthcare Law

House Republicans Vote to Sue Obama Over Healthcare Law

Reuters - US Online Video (July 31, 2014) The Republican-led House of Representatives votes to sue President Obama, accusing him of overstepping his executive authority in making changes to the Affordable Care Act. Mana Rabiee reports. Video provided by Reuters
Powered by NewsLook.com
Despite Health Questions, E-Cigs Are Beneficial: Study

Despite Health Questions, E-Cigs Are Beneficial: Study

Newsy (July 31, 2014) Citing 81 previous studies, new research out of London suggests the benefits of smoking e-cigarettes instead of regular ones outweighs the risks. Video provided by Newsy
Powered by NewsLook.com
Dangerous Bacteria Kills One in Florida

Dangerous Bacteria Kills One in Florida

AP (July 31, 2014) Sarasota County, Florida health officials have issued a warning against eating raw oysters and exposing open wounds to coastal and inland waters after a dangerous bacteria killed one person and made another sick. (July 31) Video provided by AP
Powered by NewsLook.com
Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



    Save/Print:
    Share:

    Free Subscriptions


    Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

    Get Social & Mobile


    Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

    Have Feedback?


    Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
    Mobile: iPhone Android Web
    Follow: Facebook Twitter Google+
    Subscribe: RSS Feeds Email Newsletters
    Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins