Chapter 3
Genetics and
Parkinson’s Research
Some of the greatest strides in understanding Parkinson’s
disease (PD) and developing new therapies have come
from advances in genetics made possible by people who
volunteered for clinical studies.
Just 20 years ago, most scientists believed that
unknown environmental factors were completely
responsible for Parkinson’s disease. Then
researchers collected and analyzed DNA samples
from a large family, in which many members over
several generations developed Parkinson’s. In these
samples, scientists found the first gene (SNCA)
linked to PD.
It was a game-changing discovery that established
a genetic connection to Parkinson’s and led to a
new understanding: The clumps found in the brain
cells of all people with PD (called Lewy bodies) are
made mostly of the protein alpha-synuclein, which
is made by the SNCA gene. Today, alpha-synuclein
is a leading suspect in Parkinson’s disease. Many
studies are looking to measure this protein as a way
to diagnose and track Parkinson’s and to develop
therapies to slow or stop its progression.
Today, dozens of genetic mutations have been
associated with an increased risk of Parkinson’s
and scientists are tracking the ways they influence
disease. We know, though, there is still much
to learn.
We can’t get there without a wide range of
volunteers — people with PD, their family members
and people without PD. Compared to other
clinical research, genetic