Pathophysiological consequences of mutations affecting the mitochondrial calcium uptake pathway (360G-Wellcome-202332_Z_16_Z)

£2,000

Mitochondrial calcium uptake plays critical roles in cellular energy homeostasis. Alterations both in mitochondrial function and in cellular calcium signals play major roles in the pathophysiology of many major diseases, including ischaemic injury, neurodegenerative and neuromuscular diseases. The very recent discovery of the proteins mediating mitochondrial calcium uptake provides a new opportunity to understand the physiological roles of the pathway and pathological consequences of its dysfunction, as seen in patients with mutations of MICU1 described by the host lab. The patients have learning difficulties, muscle weakness and a progressive extrapyramidal motor disorder. The mechanism whereby mutations of MICU1 cause this particular constellation of symptoms are not understood. We will use iPS cells which we have generated from patient derived fibroblasts, differentiated into neurons and myotubes – the tissues most affected in the patient – and explore the consequences of MICU1 mutations for mitochondrial calcium signalling and for mitochondrial bioenergetic function. The project will illuminate the underlying mechanisms causing symptoms in the patients and point the way to therapeutic strategies.

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Grant Details

Amount Awarded 2000
Applicant Surname Mimaroglu
Approval Committee Internal Decision Panel for C&S
Award Date 2016-04-01T00:00:00+00:00
Financial Year 2015/16
Grant Programme: Title Vacation Scholarships
Internal ID 202332/Z/16/Z
Lead Applicant Miss Ayse Gulnar Mimaroglu
Partnership Value 2000
Planned Dates: End Date 2016-09-17T00:00:00+00:00
Planned Dates: Start Date 2016-07-18T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Greater London