My major research interest relates to patients with mitochondrial myopathies, cardiomyopathies, or encephalomyopathies in whom there is a defect in mitochondrial energy generation, particularly in the electron transport chain. I am now collaborating with a number of investigators who are pursuing studies on selected patients previously diagnosed with specific deficiencies of one or more of the electron transport chain complexes. Utilizing tissues and cell lines from such patients, our goal is to identify and characterize genes responsible for these diseases, and elucidate the molecular mechanisms responsible for the biosynthesis and assembly of these complex proteins, the tissue-specific expression of the deficiencies, and the clinical presentation seen in the patients.  Recently, this collaboration, combining detailed human genetic studies with basic research of model organisms in the laboratory of Dr. Eric Shoubridge, led to the identification of the first molecular chaperone for mammalian complex I assembly.

Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA, The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondriall translation factor EFG1. Hum Mol Genet 15(11):1835-1846 (2006).

Ogilvie I, Kennaway NG, Shoubridge EA, A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest 115:2784-2792 (2005).

Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA, Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. JBiol Chem 278(44):43081-43088 (2003).

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA, Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway causing early onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72(1):101-14 (2003).

Taivassalo T, Jensen TD, Kennaway N, DiMauro S, Vissing J, Haller RG, The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain Feb;126(Pt 2):413-23 (2003).

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