Science doi:10.1126/science.1175689 (2009)

A mutation in a protein involved in cell respiration makes people susceptible to a rare type of tumour, a new study finds.

Jared Rutter at the University of Utah School of Medicine in Salt Lake City and his colleagues used yeast to uncover the function of SDH5, a previously uncharacterized mitochondrial protein. The protein is required for the assembly of functional succinate dehydrogenase (SDH), a crucial enzyme in both the citric-acid cycle and electron-transport chain. The human version of the protein has the same functions.

Previous work has linked other human mutations that knocked down SDH activity to neuroendocrine tumours called paragangliomas. The authors found that individuals in a family with hereditary paragangliomas had mutations in the gene encoding human SDH5.