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Genetics Home Reference: your guide to understanding genetic conditions
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Mitochondrial respiratory chain complex gene family

Reviewed December 2011

What are the mitochondrial respiratory chain complex genes?

Genes in the mitochondrial respiratory chain complex gene family provide instructions for proteins involved in oxidative phosphorylation, also called the respiratory chain. Oxidative phosphorylation is an important cellular process that uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. Five protein complexes, made up of several proteins each, are involved in this process. The complexes are named complex I, complex II, complex III, complex IV, and complex V.

Oxidative phosphorylation occurs in mitochondria, which are specialized, energy-producing structures inside cells. Within mitochondria, the five protein complexes are embedded in a tightly folded membrane called the inner mitochondrial membrane. During oxidative phosphorylation, the protein complexes carry out chemical reactions that drive the production of ATP. Specifically, they create an unequal electrical charge on either side of the inner mitochondrial membrane through a step-by-step transfer of negatively charged particles called electrons. This difference in electrical charge provides the energy for ATP production.

Most DNA is contained in a cell's nucleus and is called nuclear DNA. Mitochondria also contain a small amount of DNA, known as mitochondrial DNA. The mitochondrial respiratory chain complex gene family includes genes found in nuclear DNA as well as genes found in mitochondrial DNA. Mutations in either nuclear or mitochondrial genes in the mitochondrial respiratory chain complex gene family can cause disease.

Which genes are included in the mitochondrial respiratory chain complex gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the mitochondrial respiratory chain complex family (http://www.genenames.org/genefamilies/mitocomplex).

Genetics Home Reference summarizes the normal function and health implications of these members of the mitochondrial respiratory chain complex gene family: MT-ATP6, MT-CYB, SDHA, SDHB, SDHC, and SDHD.

What conditions are related to genes in the mitochondrial respiratory chain complex gene family?

Genetics Home Reference includes these conditions related to genes in the mitochondrial respiratory chain complex gene family:

  • Cowden syndrome
  • gastrointestinal stromal tumor
  • hereditary paraganglioma-pheochromocytoma
  • Leigh syndrome
  • mitochondrial complex III deficiency
  • neuropathy, ataxia, and retinitis pigmentosa
  • nonsyndromic paraganglioma

Where can I find additional information about the mitochondrial respiratory chain complex gene family?

You may find the following resources about the mitochondrial respiratory chain complex gene family helpful.

  • Biochemistry (5th Edition, 2002): Oxidative Phosphorylation in Eukaryotes Takes Place in Mitochondria (http://www.ncbi.nlm.nih.gov/books/NBK22422/)
  • Molecular Cell Biology (4th Edition, 2000): Electrons Flow from FADH2 and NADH to O2 via a Series of Multiprotein Complexes (http://www.ncbi.nlm.nih.gov/books/NBK21528/)

What glossary definitions help with understanding the mitochondrial respiratory chain complex gene family?

adenosine triphosphate ; ATP ; cell ; charged particles ; dehydrogenase ; DNA ; electron ; gene ; iron ; mitochondria ; nucleus ; oxidative phosphorylation ; oxygen ; phosphorylation ; protein ; respiratory ; subunit

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the mitochondrial respiratory chain complex gene family.

  • Saraste M. Oxidative phosphorylation at the fin de siècle. Science. 1999 Mar 5;283(5407):1488-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10066163?dopt=Abstract)
  • Hatefi Y. The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem. 1985;54:1015-69. Review. (http://www.ncbi.nlm.nih.gov/pubmed/2862839?dopt=Abstract)
  • Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet. 2001 Oct 1;10(20):2277-84. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11673411?dopt=Abstract)
  • Hanna MG, Nelson IP. Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases. Cell Mol Life Sci. 1999 May;55(5):691-706. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10379358?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2011
Published: December 16, 2014