Re: (About CMT) How a Mutation Causes Brain Damage By disrupting regular activities

[Guest guest]

Well I guess 20% of the information is better than nothing.

From: bbanjovi <bbanjovi@...>

Subject: (About CMT) How a Mutation Causes Brain Damage By disrupting

regular activities

Date: Thursday, April 1, 2010, 1:33 PM

 

How a Mutation Causes Brain Damage By disrupting regular activities within

cells

http://news. softpedia. com/news/ How-a-Mutation- Causes-Brain- Damage-138282.

shtml

A fresh scientific investigation sheds light on the mechanisms employed by a

genetic mutation in causing severe brain conditions, a research team announces.

The finding is very important for developing new tools for detection, analysis

and treatment of a common inherited neurodegenerative disease, the group writing

a paper accompanying the discovery. The study appears in the March 24 issue of

The Journal of Neuroscience.

The disorder, called Charcot-Marie- Tooth (CMT), is caused by a protein that,

apparently, is highly capable of disrupting the actions of the " power houses " of

the cells. These are organelles known as mitochondria, whose primary role is to

synthesize ATP (adenosine triphosphate) , the main energy molecule that allows

for life to exist. The way these mitochondria move alongside nerve fibers is

essential for an efficient communication between brain and muscles,

but the protein mutations are able to prevent that from happening.

The mitochondria therefore begin to move chaotically, preventing the accurate

passing-on of signals from the cortex to the limbs. Responsible for this change

is the protein mitofusin 2m, which has been determined in other studies to play

an important part in the development of CMT. During the new experiments,

researchers at the Washington University School of Medicine, led by expert

Baloh, MD, PhD, wanted to gain more insight into this phenomenon. The

work was prompted by the fact that CMT affects around 2.6 million people

annually.

The disease is largely characterized by loss of muscle tissue and sensation in

the limbs, which occurs as brain-muscle communication channels are obstructed.

" Our study provides the first evidence that mitofusins directly regulate the

movement of mitochondria in nerve fibers. Furthermore, our work suggests the

basis for this particular form of CMT is the abnormal movement of mitochondria

in these fibers, " the team leader says. " This discovery places this type of CMT

in the ever-growing list of neurodegenerative diseases caused by transport

problems and strengthens the possibility of using general enhancers of this

process as therapy for different types of diseases, " adds University of Antwerp

expert Timmerman, PhD, who was not a part of the new investigation.