Mitochondrial Disorders

Volume 837 of the series Methods in Molecular Biology pp 17-34


Nuclear Gene Defects in Mitochondrial Disorders

  • Fernando ScagliaAffiliated withDepartment of Molecular and Human Genetics, Baylor College of Medicine Email author 

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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.

Key words

Mitochondria Respiratory chain defects Mitochondrial cytopathies Nuclear genes