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Investigation of the effects of MFN2 mutations in cellular and Drosophila models.

Afzal Mahmood, Qurat-ul-ain (2015) Investigation of the effects of MFN2 mutations in cellular and Drosophila models. PhD thesis, University of Sheffield.

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Abstract

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.

Item Type: Thesis (PhD)
Academic Units: The University of Sheffield > Faculty of Science (Sheffield) > Biomedical Science (Sheffield)
Depositing User: Ms Qurat-ul-ain Afzal Mahmood
Date Deposited: 15 Dec 2015 11:33
Last Modified: 15 Dec 2015 11:33
URI: http://etheses.whiterose.ac.uk/id/eprint/10760

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