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MRC Mitochondrial Biology Unit


Group leader Professor Edmund Kunji and Dr Sotiria Tavoulari, both in the MBU Mitochondrial Carriers research group, attended the Inaugural Citrin Foundation Global Research Symposium on the 11th and 12th of November in Singapore. They are funded by the Citrin Foundation to characterise the molecular properties of the human mitochondrial aspartate/glutamate carrier, also called citrin, in order to understand its role in Citrin deficiency.

Citrin is central to many important metabolic functions of the human cell, and its malfunction can affect neonates, children and adults with different manifestations. The condition has a high frequency in Far Eastern populations, the incidence rates are currently estimated to be 1:17,000 in Japan and China, 1:9,000 in Taiwan, and 1:50,000 in Korea based on the allele carrier rates in the respective countries. However, in recent years there have been reports of this condition among Eastern Europeans, Ashkenazi Jews, Australians, French Canadians, suggesting that it can be a pan-ethnic condition.

Professor Sir John Walker, Emeritus Director of the MBU, has recently become a Special Scientific Advisor of the Citrin Foundation.