Jump to content
RemedySpot.com

Gene for rare, juvenile onset PLS discovered

Rate this topic


Guest guest

Recommended Posts

The discovery of the first gene linked to PLS, and the

second gene linked to ALS, were reported today.

Two independent teams of scientists reported in

today's issue of the journal Nature Genetics that they

have found a gene that can cause either a rare form of

juvenile onset ALS OR a rare form of juvenile onset

PLS. The gene is an autosomal recessive gene, and has

been named ALS2.

Whether a mutation in the ALS2 gene causes ALS or PLS

depends on the mutation. A mutation found in one

specific place on the ALS2 gene causes juvenile onset

ALS. Either one of two mutations in other locations

on the ALS2 gene cause juvenile onset PLS.

The leader of one of the teams was Teepu Siddique,

M.D. of Northwestern University Medical School's

Department of Cell and Molecular Biology.

" We think there are about a dozen genes involved in

ALS. We've now gotten two of them and know the rough

locations of another two, " said Dr Siddique, as quoted

by Gorner in today's issue of the Chicago

Tribune. (See

http://www.chicagotribune.com/news/nationworld/chi-0110040308oct04.story

)

The Tribune article also contained the following:

" The other genes shouldn't take us so long to find, "

Dr. Siddique said, expecting that some of them will

not directly cause the disease but may make someone

more vulnerable.

" For the first time, we have the tools to dissect

these genes and learn, step-by-step, how nerve cells

degenerate. That hopefully will lead us to molecular

targets we can hit with new drugs. "

The ALS2 gene encodes a protein called " alsin " . Dr.

Siddique theorizes that the mutated form of ALS2 that

causes juvenile onset PLS may create a form of the

alsin protein that still retains partial function, and

causes PLS. More significant loss of function of the

alsin protein caused by other mutations to ALS2 result

in ALS.

The articles are:

Yang et al., " The gene encoding alsin, a protein with

three guanine-nucleotide exchange factor domains, is

mutated in a form of recessive amyotrophic lateral

sclerosis " , Nature genetics, Vol. 29, October, 2001,

pp. 160-165.

Hadano et al., " A gene encoding a putative GTPase

regulator is mutated in familial amyotrophic lateral

sclerosis 2 " , Nature genetics, Vol. 29, October, 2001,

pp. 166-173.

See also an editorial in Nature Genetics:

Shaw, " Genetic inroads in familial ALS " , Nature

genetics, Vol. 29, October, 2001, pp. 103-104.

__________________________________________________

Link to comment
Share on other sites

Join the conversation

You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.

Guest
Reply to this topic...

×   Pasted as rich text.   Paste as plain text instead

  Only 75 emoji are allowed.

×   Your link has been automatically embedded.   Display as a link instead

×   Your previous content has been restored.   Clear editor

×   You cannot paste images directly. Upload or insert images from URL.

Loading...
×
×
  • Create New...