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Mitochondrial Disorders Caused by Nuclear Genes pp 185–202Cite as

Complex Subunits and Assembly Genes: Complex I

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Abstract

Mitochondrial respiratory chain complex I (CI) performs the first step of oxidative phosphorylation (OXPHOS), essential for cellular energy production. This large intricate protein complex is composed of multiple subunits encoded both by the mitochondrial and nuclear genomes and its assembly depends on several nuclear-encoded factors. Isolated CI deficiency due to mutations in nuclear-encoded subunits or assembly factors is a relatively common mitochondrial disorder; however, many patients remain without a molecular diagnosis. Clinical symptoms may vary but are mostly neurological with early manifestation and a grave prognosis. Despite increasing knowledge of CI assembly function and pathomechanism gained by the study of patient’s cells and animal models, a satisfactory treatment, is presently unavailable. Therefore, identification of the underlying molecular cause is imperative in order to provide genetic counseling.

The nomenclatures of genes C20orf7 and C8orf38 has recently been updated by the Human Genome Organization (HUGO) in accordance with the Guidelines for Human Gene Nomenclature as follows: C20orf7 is now designated as NDUFAF5 and C8orf38 is now designated as NDUFAF6.

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Acknowledgments

The author is supported by research grants from the Israel Science Foundation and by the Chief Scientist Office Ministry of Health Israel.

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  1. Department of Genetic and Metabolic Diseases and Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center, P.O.B 12000, 91120, Jerusalem, Israel

    Ann Saada (Reisch) Ph.D.

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  1. Ann Saada (Reisch) Ph.D.
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Correspondence to Ann Saada (Reisch) Ph.D. .

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  1. , Dept. of Molecular and Human Genetics, Baylor College of Medicine, Baylor Plaza ONE, Houston, 77030, Texas, USA

    Lee-Jun C. Wong

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Saada (Reisch), A. (2013). Complex Subunits and Assembly Genes: Complex I. In: Wong, LJ. (eds) Mitochondrial Disorders Caused by Nuclear Genes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3722-2_12

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