Lin Chew

• MBBS
• The molecular genetic basis of mitochondrial complex I deficiency

Mitochondria are intracellular organelles responsible for generation of adenosine triphosphate (ATP). This process is dependent on 4 multi-subunit polypeptide complexes (I to IV) and the mitochondrial ATPase (complex V). Complex I is the largest of these complexes and its deficiency is associated with a range of neurological disease presentations. As part of on-going Wellcome Trust and NIHR-funded studies, Professor Taylor’s group have developed a technique to concurrently screen all 50 known genes and candidate genes implicated in isolated Complex I deficiency. This will be done on a genetically-undetermined patient cohort, and aims to define the molecular aetiology of the deficiency.

Funding Source: Newcastle University