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Robert Brown talks with
ScienceWatch.com and answers a few questions about
this month's New Hot Paper in the field of Neuroscience &
Behavior.
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Article Title: Mutations in the FUS/TLS Gene on
Chromosome 16 Cause Familial Amyotrophic Lateral
Sclerosis
Authors: Kwiatkowski, TJ, et al.
Journal: SCIENCE, Volume: 323, Issue: 5918, Page: 1205-1208,
Year: FEB 27 2009
* Massachusetts Gen Hosp, Dept Neurol, 114 16th St,
Charlestown, MA 02129 USA.
* Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA 02129
USA.
(addresses have been
truncated.)
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Why do you think your paper is highly
cited?
The paper describes a genetic mutation that can cause ALS (amyotrophic
lateral sclerosis, or Lou Gehrig’s disease). This is of potential
interest because ALS is such a devastating disorder.
The finding also incriminated an abnormal protein that is involved in
aspects of a type of genetic material in the cell known as RNA. That was
unexpected and probably enhanced interest in this new ALS gene.
Does it describe a new discovery, methodology, or
synthesis of knowledge?
It describes a gene discovery that helps us understand the causes of ALS.
Since the initial report, it has turned out that the protein made by this
gene is also implicated in other forms of brain degeneration.
Would you summarize the significance of your paper
in layman's terms?
It helps us understand the causes of ALS and some other degenerative
disorders of the brain.
How did you become involved in this research, and
were there any problems along the way?
I became interested in the use of genetics to understand ALS in the early
1980s, in collaboration with my colleague, Dr. Robert Horvitz, at the
Massachusetts Institute of Technology, along with a team of associates.
Where do you see your research leading in the
future?
We hope that these findings will provide insight into pathways of motor
nerve cell death that will ultimately help us find therapies for ALS and
related disorders.
Robert H. Brown, Jr., M.D.
Professor
Department of Neurology
School of Medicine
University of Massachusetts
Worcester, MA, USA
Web
KEYWORDS: RNA-BINDING PROTEIN; PRO-ONCOPROTEIN TLS/FUS; TARDBP MUTATIONS;
TLS; IDENTIFICATION; TRANSCRIPTION; LIPOSARCOMA; ACTIVATION; NUCLEAR;
DISEASE; Lou Gehrig’s Disease.
