Parkinson's Disease Treatment May Involve Gene Therapy - UCLA
Researchers Found KCNC3 Gene Mutation
Areas of the
Brain Affected By Parkinson's Disease
Researchers in Los Angeles believe they have linked a gene mutation that
regulates how potassium enters cells to a neurodegenerative disease and
to another disorder that causes mental retardation and coordination
problems. This discovery may lead to treatments for Alzheimer’s and
The movement disorder called spinocerebellar ataxia, usually appears in
adulthood and causes loss of neurons in the brain's cerebellum,
resulting in progressive loss of coordination (ataxia). According to Dr
Stefan Pulst "This type of gene has never before been linked to nerve
cell death." Dr. Pulst, of Cedars-Sinai Medical Center at the
University of California, Los Angeles, led the new study.
Dr. Pulst and his colleagues looked for the gene that caused the
neurodegenerative movement disorder spinocerebellar ataxia in a Filipino
family. They believe the gene called KCNC3 may have something to do
The KCNC3 gene codes for one of the proteins that form potassium
channels. These channels are pore-like openings in the cell membrane
that control the flow of potassium ions into the cell. Previous
research identified a different KCNC3 mutation in a French Family with
spinocerebellar ataxia type 13, which causes childhood-onset ataxia,
cerebellar degeneration, and mild mental retardation.
The KCNC3 gene codes for a type of potassium channel that opens and
closes very quickly. This channel is important in fast-bursting neurons
that fire hundreds of times per second in the brain. Dr. Pulst said
"Fast-bursting neurons are like building blocks – they are used in the
nervous system a lot."
Dr. Pulst said these channels also aid the motor control area of the
brain called the substantia nigra, and the hippocampus where they play a
role in learning. Earlier studies found abnormalities in the number of
potassium channels in Parkinson's, Alzheimer's, and Huntington's
diseases. It is possible the potassium channel abnormalities may
contribute to a wide variety of neurodegenerative diseases.
The gene mutations in the Pilipino and French families affected the
potassium channels very differently. The researchers found the mutation
found in the Filipino family completely prevented the potassium channel
from functioning, while the mutation in the French family caused the
channels to open earlier than normal and close later. This reduced the
rate at which the neurons could fire.
The potassium channel genes have also been linked to epilepsy, cardiac
arrhythmias, and periodic muscle paralysis.. One potassium channel
defect has also been found in a disorder called episodic ataxia type 1
that causes brief episodes of ataxia without neurodegeneration.
The unexpected finding was that the potassium channel defect may be
linked to neurodegenerative disease or mental retardation. This was
unexpected because in mice studies, the KCNC3 gene have only mild
The research may lead to drugs that alter the activity of potassium
channels. Dr. Pulst said in order to maximize the benefits and reduce
side effects; researchers would need to find drugs that are specific for
this type of channel.
Funding for the study came in part from National Institutes of Health's
National Institute of Neurological Disorders and Stroke (NINDS). Dr.
Katrina Gwinn-Hardy, M.D., the NINDS program director for the research
said "This paper is a good example of how gene discovery is useful for
giving clues about therapeutic targets and strategies, which is the most
important goal of human gene discovery research in my view."
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