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Nuclear Gene Defects in Mitochondrial Disorders

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Mitochondrial Disorders

Part of the book series: Methods in Molecular Biology ((MIMB,volume 837))

Abstract

Most mitochondrial cytopathies in infants are caused by mutations in nuclear genes encoding proteins targeted to the mitochondria rather than by primary mutations in the mitochondrial DNA. Over the past few years, the awareness of the number of disease-causing mutations in different nuclear genes has grown exponentially. These genes encode the various subunits of each respiratory chain complex, the ancillary proteins involved in the assembly of these subunits, proteins involved in mitochondrial DNA replication and maintenance, proteins involved in mitochondrial protein synthesis, and proteins involved in mitochondrial dynamics. This increased awareness has added a challenging dimension to the current diagnostic workup of mitochondrial cytopathies. The advent of new technologies such as next-generation sequencing should facilitate the resolution of this dilemma.

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  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Fernando Scaglia

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    Lee-Jun C. Wong, Ph.D.

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Scaglia, F. (2012). Nuclear Gene Defects in Mitochondrial Disorders. In: Wong, Ph.D., LJ. (eds) Mitochondrial Disorders. Methods in Molecular Biology, vol 837. Humana Press. https://doi.org/10.1007/978-1-61779-504-6_2

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