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My name is Helene Plun-Favreau
and I am a Senior Lecturer at
UCL Institute of Neurology.
So my lab is interested
in mitophagy and autosomal
recessive Parkinson's disease.
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Parkinson's disease is a progressive
neurodegenerative movement
disorder.
It affects about 1%
of the population
above the age of 65 years old.
The clinical features
of Parkinson's disease
are resting tremor, rigidity and
slowness in movement, as well as
the characteristic
postural instability.
Parkinson's disease can be
induced by toxins that poison
the mitochondria such as
neurotoxins and pesticides.
It is characterized by the slow
and progressive degeneration
of dopaminergic neurons in the
substantia nigra.
On the left, you can see a normal
brain where dopaminergic neurons
are stained with neuromelanin,
a natural dark pigment.
And on the right, a
Parkinson's diseased brain.
You can see that most of the
dopaminergic neurons are lost.
Parkinson's disease
is also characterized
by some characteristic cytoplasmic
inclusions called Lewy bodies.
Although Parkinson's
disease was long considered
as a non-genetic disorder of
sporadic origin, 5% to 10%
of the patients are now known to
have genetic forms of the disease.
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In fact, the research in
Parkinson's disease genetics
has been extremely prolific
over the past 15 years.
The first gene discovered was
alpha-synuclein encoded by SNCA.
Alpha-synuclein is the main
constituent of the Lewy bodies
together with ubiquitin.
Since then, a number of loci
and genes have been identified.
This table is about a year old and
most probably out of date already.
