FROM: Pharma Investments, Ventures & Law Weekly
September 19, 2004
SECTION: EXPANDED REPORTING; Pg. 59
HEADLINE: COLUMBIA UNIVERSITY;
Research demonstrates possible cause of inherited form of brain disease
Columbia University Medical Center and Albert Einstein College of
Medicine
researchers have identified a possible cause of an inherited form of
Parkinson
disease, which may be related to more common forms of the disease.
While the cause of most cases of Parkinson disease is unknown, a few
cases
are inherited and can be traced to mutations in four different genes,
including
the alpha-synuclein gene. This is the first study that may pinpoint the
mechanism by which the mutant gene initiates a cascade of events that
causes
this devastating neurological disease.
"This discovery could aid in the development of new, targeted
treatments to
slow or stop the disease progression," said David Sulzer, PhD, professor
of
neurology and psychiatry at Columbia University College of Physicians and
Surgeons and senior author of the study, which was published in Science.
"This
is an extension of the genetic research that discovered the mutant
alpha-synuclein gene and it is exciting to see how this information can
be used
to possibly determine the cause of Parkinson's disease."
Neurons that release dopamine, the neurotransmitter that controls
coordinated movement, slowly die in people with Parkinson disease,
causing
progressively more limited mobility and speech. Results of the new
research
indicate that in patients with a mutant alpha-synuclein gene, Parkinson
disease
may be caused by a blockage within dopamine neurons.
In the study, the mutant forms of alpha-synuclein protein was shown
to bind
to protein disposal sites within dopamine neurons. This creates a
blockage that
leads to the eventual death of the neurons. The study was conducted in
dopamine
neurons taken from mice.
Sulzer likened the situation to a garbage truck stalling at the
entrance to
the town dump. "If the truck breaks down right in front of the dump, not
only
does it fail to deliver its own garbage to the dump, but it blocks all
the other
garbage trucks and the town fills up with garbage," said Sulzer.
Together with Ana Maria Cuervo, MD, PhD, assistant professor of
anatomy and
structural biology at Albert Einstein College of Medicine and the study's
lead
author, Sulzer is now using the study's findings to examine whether a
backup at
the protein disposal sites also plays a key role in the most common
idiopathic
form of Parkinson, which has no known cause.
"These patients do not carry a mutant alpha-synuclein gene, but their
alpha-synuclein proteins bear modifications not seen in healthy people
that may
cause the protein to act as the mutant does," said Sulzer (Science,
2004;;305:1292-1295).
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