- Scientists found a genetic abnormality that may greatly raise the
likelihood of developing early Parkinson's disease, and said on
Monday their finding could lead to new treatments for the fatal
brain ailment.
Lorraine Clark of Columbia University in New York and other
researchers looked at the genes of 278 people who have Parkinson's
and another 179 people who do not.
Mutations in a gene, dubbed GBA, were present in 22 percent of those
whose Parkinson's began before age 50, compared to 10 percent of
those whose Parkinson's began after age 50, as it does in most
instances, the study showed.
On average, those with the gene abnormality developed Parkinson's
almost two years sooner than people without it.
Mutations in the gene were seen in 14 percent of the people with the
disease and 5 percent of those who do not, the researchers wrote in
the journal Neurology.
"This gene probably is one risk factor for early-onset Parkinson's
disease, and may turn out to be one of the most important genes
identified to date, based on the frequency of the mutations we are
findings in early-onset cases," Clark said in a telephone interview.
While the condition most often develops after age 65, 15 percent of
those diagnosed with it are under age 50, according to the National
Parkinson Foundation.
Parkinson's affects nerve cells in the area of the brain responsible
for muscle movement, and is marked by a shortage of the brain
chemical dopamine. Its symptoms worsen over time.
The main symptoms include trembling, muscle rigidity, slowmovement
and impaired balance and coordination. It progresses to virtual
paralysis and death. There are treatments, but they stop working
after time.
Researchers previously had found that mutations in this same GBA
gene cause Gaucher's disease, a disorder in which internal organs
such as the spleen, liver and brain do not work correctly because of
a build-up of a fatty substance.
The gene's normal role is to degrade this substance, called
glucocerebroside.
The researchers also found that the gene abnormality was more common
among Parkinson's patients with Jewish ancestry. Of the people with
Parkinson's, the mutations were present in 17 percent of those with
Jewish ancestry and 8 percent of those without such ancestry.
While Parkinson's and Gaucher's are quite different incurable
diseases, their causes may have genetic similarities, Clark said.
Gaucher's disease is most common in people with Eastern and Central
European Jewish ancestry.
Will Dunham
Sep 17, 2007 (Reuters)