Navigation Links
Neurological Disorder Gene Identified

University of Michigan research laboratory scientists have identified the gene responsible for one type of Charcot-Marie-Tooth disorder, a common inherited neurological disease, thanks to the chance appearance of a strain of impaired pale tremor mice .

The discovery of the gene mutation means a genetic test will be possible for people with a less common subtype of the disorder -- one that until now was unidentified and had an unknown genetic basis, says Miriam Meisler, senior author of the study.

Charcot-Marie-Tooth disorder, one of the most prevalent inherited neurological disorders, affects one in 2,500 people in the United States, usually beginning in youth or by mid-adulthood. It is actually a group of related disorders that affect the bodys peripheral nerves, with symptoms such as pain and.muscle weakness in the feet and legs that lead to foot deformities, tripping and difficulty walking.

The gene abnormalities responsible for 70 percent of cases are already known. Those patients and their families can choose to have genetic tests, which may be used to guide treatment or help family members find out if they are at risk.

But the remaining 30 percent of patients, who have different variants of the disease, have not had that option. Meisler, a professor of human genetics at the U-M Medical School, predicts the new discovery will quickly lead to a test that can diagnose which of those patients have the newly identified gene mutation.

These probably represent about 5 percent of the unexplained 30 percent of cases, preliminary testing suggests. With genetic knowledge, Family members can make decisions about reproduction, Meisler says of the discoverys implications. It also opens up directions for developing therapies. Now pharmacologists and drug developers can target this gene.

The genetic sleuthing that led to the discovery began when scientists in Meislers genetics lab noticed that s ome mice of a common laboratory type gave birth to offspring with a strange, wobbly gait and light coat color.

The offspring quickly developed signs of severe central nervous system degeneration and peripheral neuropathy and died. The team named the strain pale tremor mice for their lack of normal pigment and the severe trembling they developed soon after birth.

What could explain the mices debilitating symptoms" And could that knowledge be relevant in people with neurological diseases" Clement Y. Chow, the studys lead author and a U-M Ph.D. student in human genetics, pursued answers.

Chow was able to identify the gene involved, called FIG4, and find the mutation responsible for the symptoms in less than three years. Thats a third of the time it might have taken two decades ago, in part because of valuable data from the Human Genome Project, Meisler says.

Meislers research team, which included scientists at the U-M Life Sciences Institute, found that the mutation caused a signaling molecule, called PI(3,5)P2, to be under-produced in both yeast and mice cells. This little-studied signaling molecule was known to be present in yeast cells but has not been well studied in mammals.

The researchers also identified how the loss of normal FIG4 gene function results in disease in the pale tremor mice: Large fluid-filled chambers called vacuoles crowd the nerve cells and disrupt cell processes.

In mice, the peripheral nervous system was most affected. So we decided to ask whether human patients with peripheral neuropathic disease had the same mutation, says Meisler.

The researchers tested 95 patients with Charcot Marie Tooth disorder of unknown cause. In four patients, they found mutations of FIG4, the same gene implicated in the diseased mice. The finding has resulted in a newly identified form of the disease called CMT4J.

In the phase of the research involving hu man patients, the multidisciplinary team of U-M scientists collaborated with scientists at Wayne State University and Baylor College of Medicine in Houston.

The study also produced other intriguing findings: The signaling function governed by the FIG4 gene, common to yeast, mice and humans, is what geneticists call a conserved function, persisting since very early in evolution.
The pale tremor mouse will be useful as a laboratory animal model in further research on Charcot-Marie-Tooth disorder as well as other conditions involving neuropathy. Meislers lab plans to use the mice in studies to find out why their neurons deteriorate so rapidly



'"/>




Related medicine news :

1. Neurological Disorders Overcome By Proteins
2. Neurological Damage Can Be Reduced By Stem Cell Transplants
3. Pick Apples for Good Neurological Health, Says New Research
4. Rare Neurological Disorder Linked to Flu shot
5. Detection of Neurological Disorder is Just a Sniff Away!!
6. Cocaine During Pregnancy can Cause Behavioral and Neurological Problems in the Child
7. America Sags Under Burden of Neurological Diseases
8. Incidence of Neurological Disorders on the Rise
9. WHO States, “One Billion People Are Affected By Neurological Disorders
10. Neurological Recovery Aided by Manliness
11. Link Between Gastric Bypass Surgery and Neurological Conditions
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/12/2017)... ... October 12, 2017 , ... The ... demand of today’s consumer and regulatory authorities worldwide. From Children’s to Adults 50+, ... to meet the highest standard. , These products are also: Gluten Free, ...
(Date:10/12/2017)... ... October 12, 2017 , ... The American College of Medical ... Friedman, PhD, FACMI, during the Opening Session of AMIA’s Annual Symposium in Washington, D.C. ... honor of Morris F. Collen, a pioneer in the field of medical informatics, this ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... ... drug delivery system that we intend to develop to enable prevention of a ... lead to severe hearing loss, especially in pediatric patients. For cisplatin, hearing loss ...
(Date:10/12/2017)... , ... October 12, 2017 , ... HMP , ... recipient of a 2017 Folio Magazine Eddie Digital Award for ‘Best B-to-B Healthcare Website.’ ... on October 11, 2017. , The annual award competition recognizes editorial and design excellence ...
(Date:10/12/2017)... ... 2017 , ... On Saturday, October 21, the Health & Wellness Center at ... raise money for the American Heart Association Heart Walk. Teams of up to 10 ... to keep their treadmills moving for 5 hours. Treadmills will start at 7:00 p.m. ...
Breaking Medicine News(10 mins):
(Date:10/11/2017)...  True Health, a leader in integrated diagnostics ... National Breast Cancer Awareness month to educate doctors ... Research recently published in ... than 10 million American women are at significant ... BRCA2 and have not had testing. These mutations can ...
(Date:10/5/2017)...  In response to the nationwide opioid epidemic, ... (AAOMS) released prescribing recommendations that urge ibuprofen – ... a first-line therapy to manage a patient,s acute ... Recognizing the value and importance of the ... Acute and Postoperative Pain Management" stresses that practitioners ...
(Date:10/2/2017)... INDIANAPOLIS , Oct. 2, 2017  Eli Lilly ... its financial results for the third quarter of 2017 ... a conference call on that day with the investment ... performance. The conference call will begin at ... public can access a live webcast of the conference ...
Breaking Medicine Technology: