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Project

Molecular genetics and functional study of HSPB8 mutations associated with hereditary motor neuropathy.

In this proposal, I intend to obtain better insights into the precise mechanisms underlying mutant HSPB8 protein resulting in specific neuronal degeneration. Our hypothesis is that distal HMN might be as a result of cell death of peripheral neurons due to aggregation and abnormal interaction of mutant HSPB8 protein. Mutant protein could interfere with the cytoskeleton network and axonal transport pathways, and this could ultimately lead to perikaryal atrophy and axonal loss. Another mechanism might be the impairment of energy production along this specialized axon which might alter axoplasmic transport activities or led to synaptic dysfunction.
Date:1 Oct 2008 →  30 Sep 2011
Keywords:HEREDITARY, NEUROPATHY
Disciplines:Genetics, Microbiology, Systems biology, Molecular and cell biology, Neurosciences, Veterinary medicine, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing