Parkinson's Disease (cont.)
What Genes are Linked to Parkinson's Disease?
Several genes have now been definitively linked to Parkinson's disease.
The first to be identified was alpha-synuclein. In the 1990s, researchers at NIH
and other
institutions studied the genetic profiles of a large Italian family and three
Greek families with familial Parkinson's disease and found that their disease was related to a
mutation in this gene. They found a second alpha-synuclein mutation in a German
family with Parkinson's disease. These findings prompted studies of the role of alpha-synuclein
in Parkinson's disease, which led to the discovery that Lewy bodies from people with the sporadic
form of Parkinson's disease contained clumps of alpha-synuclein protein. This discovery revealed
a potential link between hereditary and sporadic forms of the disease.
In 2003, researchers studying inherited Parkinson's disease discovered
that the disease in one large family was caused by a triplication of the normal
alpha-synuclein gene on one copy of chromosome 4. This triplication caused people in the affected family
to produce too much of the normal alpha-synuclein. This study showed that an
excess of the normal form of the protein could result in Parkinson's disease, just as the
abnormal form does.
Other genes linked to Parkinson's disease include parkin, DJ-1, PINK1, and LRRK2. Parkin,
DJ-1, and PINK-1 cause rare, early-onset forms of Parkinson's disease. The parkin gene is
translated into a protein that normally helps cells break down and recycle
proteins. DJ-1 normally helps regulate gene activity and protect cells from
oxidative stress. PINK1 codes for a protein active in mitochondria. Mutations in
this gene appear to increase susceptibility to cellular stress.
LRRK2, which is translated into a protein called dardarin, was originally
identified in several English and Basque families and causes a late-onset form
of Parkinson's disease. Subsequent studies have identified this gene in other families with
Parkinson's disease as
well as in a small percentage of people with apparently sporadic Parkinson's
disease.
Researchers are continuing to investigate the normal
functions and interactions of these genes in order to find clues about how
Parkinson's disease
develops. They also have identified a number of other genes and chromosome
regions that may play a role in Parkinson's disease, but the nature of these links is not yet clear.
Next: Who Gets Parkinson's Disease? »
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