Navigation Links
Gene Mutations Identified for Charcot-Marie-Tooth Syndrome
Date:3/10/2010

Researcher's personal genome used to study neurological disorder

WEDNESDAY, March 10 (HealthDay News) -- By analyzing the genome of a colleague who has Charcot-Marie-Tooth syndrome, U.S. scientists have identified gene mutations associated with the neurological disorder, which affects the function of nerves in the limbs, hands and feet.

The study, published online March 10 in the New England Journal of Medicine, involved sequencing the complete genome of Dr. James Lupski, vice chairman of molecular and human genetics at Baylor College of Medicine in Houston.

The researchers found that Lupski has different mutations in the copies of the gene SH3TC2 that he inherited from his parents. Neither parent has the disease but four of their children inherited both the gene mutations and the disease.

"This is the first time we have tried to identify a disease gene this way," Lupski said in a Baylor news release. "It demonstrates that the technology is robust enough that we can find disease genes by determining the whole genome sequence. We can start to use this technology to interpret the clinical information in the context of the sequence -- of the hand of cards you have been dealt. Isn't that the goal or dream of personalized genomic medicine?"

Lupski and his colleagues also found that a person who carries only one of the recessive mutations is susceptible to carpal tunnel syndrome.

"I wonder how often this occurs," Lupski said. "People who carry one gene for a recessive disease may have susceptibility for complex traits. Will we be able to look at some alleles [gene copies] like this to see what you might be susceptible to?"

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about Charcot-Marie-Tooth syndrome.



-- Robert Preidt



SOURCE: Baylor College of Medicine, news release, March 10, 2010


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Gene Mutations Behind Brain Reduction
2. Genome of Leukemia Patient Reveals Common Mutations
3. Boehringer Ingelheim to Commence Phase III Study Investigating the Role of BIBW 2992 as First-Line Treatment for Non-Small Cell Lung Cancer (NSCLC) Patients with EGFR Mutations
4. Study Shows a Link Between Schizophrenia & Genetic Mutations
5. JNCI news brief: Hepatitis B virus mutations may predict risk of liver cancer
6. New Cancer Drug Fights Tumors in Those With BRCA Mutations
7. Quest Diagnostics Introduces First Comprehensive Laboratory Test To Analyze KRAS, NRAS, and BRAF Gene Mutations in Reflex Testing Service
8. Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening
9. First noninvasive technique to accurately predict mutations in human brain tumors
10. Men With BRCA Gene Mutations Unaware of Cancer Risks
11. 2 gene mutations linked to most common brain cancers -- and longer survival
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/20/2017)... ... 20, 2017 , ... Chuck E. Cheese’s® and Center for Autism and Related ... Chuck E. Cheese’s locations throughout New England, New York and New Jersey to provide ... the fun of visiting Chuck E. Cheese’s in a sensory-friendly environment. , After ...
(Date:2/19/2017)... ... February 19, 2017 , ... The Citadel’s new Swain Department ... being led by Amelia Joseph, Ph.D. Joseph was engaged by the college as a ... department in early 2016. After a nation-wide search, she was selected to head the ...
(Date:2/19/2017)... ... February 19, 2017 , ... ... result in better care, and MEDfx and the Delaware Health Information Network (DHIN) ... , As the nation’s first state-wide health information exchange, DHIN stores and shares ...
(Date:2/18/2017)... Waltham, Massachusetts (PRWEB) , ... February 17, 2017 ... ... be the leading source of disruptive innovation in the industry, according to the ... Insights Reports are based on surveys of the NEJM Catalyst Insights Council, a ...
(Date:2/18/2017)... ... February 17, 2017 , ... Park Cities Pet Sitter President, Joette White, ... Pet Life Radio network. The episode, which was posted this week, features a ... factors led to Park Cities Pet Sitter’s being awarded the 2017 National Association of ...
Breaking Medicine News(10 mins):
(Date:2/19/2017)... Feb. 19, 2017   AC Group Inc. , ... ranking of vendors in the PMS/EHR healthcare marketplace, will ... system requirements to succeed in this ecosystem at HIMSS,17. ... together information obtained from over 200 ACOs, compared and ... and services companies that are providing different pieces of ...
(Date:2/19/2017)... , February 18, 2017 Marapharm ... to purchase a Medical Delivery Service with the specific ... transactions between qualified patients and caregivers. The delivery service ... located in the Coachella Valley, California ... Los Angeles area to the West, population ...
(Date:2/18/2017)... Feb. 17, 2017   Parker Waichman ... the rights of victims injured by medical devices, ... to call for better reporting. Congress required hospitals ... Safety concerns involving power morcellators and duodenoscopes prompted ... investigate how hospitals report injuries and deaths related ...
Breaking Medicine Technology: