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Title: Investigation of the effects of MFN2 mutations in cellular and Drosophila models
Author: Afzal Mahmood, Qurat-ul-ain
ISNI:       0000 0004 5371 4234
Awarding Body: University of Sheffield
Current Institution: University of Sheffield
Date of Award: 2015
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Mitochondria continuously undergo changes in their morphology by two dynamic processes called mitochondrial fusion and mitochondrial fission. Mitochondrial fusion results in longer mitochondria and is important for the complementation of mtDNA and intermixing of essential mitochondrial proteins and nutrients to maintain healthy mitochondrial population. Mfn1 and Mfn2 are involved in outer mitochondrial membrane fusion while OPA1 mediates inner mitochondrial membrane fusion. On the other hand, mitochondria are broken into smaller units for easy transport and removal of damaged mitochondria by Drp1. Defective mitochondrial dynamics has been linked with various common neuropathies and neurodegenerative diseases. Charcot Marie Tooth Type 2A (CMT2A) and its subtype Hereditary motor and sensory neuropathy type VI (HMSNVI) are caused by mutations in Mfn2 and result in progressive loss of distal motor and sensory neurons of peripheral nervous system. However, the pathomechanism of Mfn2 mutations and specific degeneration of peripheral motor and sensory neurons is still unclear.
Supervisor: Whitworth, Alexander ; Grierson, Andrew Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available