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Autosomal recessive Parkinson’s disease and mitophagy
Published on July 1, 2014 23 min
Other Talks in the Series: The Genetic Basis of Neurological Disorders
Neurodegenerative disease: the medical imperative for the developed world
- Prof. John Hardy
- Institute of Neurology, University College London, UK
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.
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.
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 This table is about a year old and most probably out of date already.