OPA3 explained

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.^{[1] [2] [3]}

Clinical significance

Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene.^[4] In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature.^[5]

See also

• 3-Methylglutaconic aciduria

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . September 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination . Genome Research . 10 . 11 . 1788–1795 . November 2000 . 11076863 . 310948 . 10.1101/gr.143000 .
• Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y . 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings . Molecular Genetics and Metabolism . 76 . 3 . 201–206 . July 2002 . 12126933 . 10.1016/S1096-7192(02)00047-1 .
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA . 6 . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proceedings of the National Academy of Sciences of the United States of America . 99 . 26 . 16899–16903 . December 2002 . 12477932 . 139241 . 10.1073/pnas.242603899 . free . 2002PNAS...9916899M .
• Garcin R, Raverdy P, Delthil S, Man HX, Chimenes H . [On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms] . Revue Neurologique . 104 . 373–379 . May 1961 . 13703570 .
• Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D . 6 . OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract . Journal of Medical Genetics . 41 . 9 . e110 . September 2004 . 15342707 . 1735897 . 10.1136/jmg.2003.016576 .
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A . 6 . From ORFeome to biology: a functional genomics pipeline . Genome Research . 14 . 10B . 2136–2144 . October 2004 . 15489336 . 528930 . 10.1101/gr.2576704 .
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S . 6 . The LIFEdb database in 2006 . Nucleic Acids Research . 34 . Database issue . D415–D418 . January 2006 . 16381901 . 1347501 . 10.1093/nar/gkj139 .
• Fink N, Mouallem M . [Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor] . Harefuah . 145 . 6 . 402–3, 472 . June 2006 . 16838891 .

External links

• GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3
• OMIM entries on 3-Methylglutaconic Aciduria Type 3

Notes and References

1. Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC . 6 . Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene . Human Molecular Genetics . 6 . 4 . 563–569 . April 1997 . 9097959 . 10.1093/hmg/6.4.563 . Hanan Costeff . free .
2. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O . Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews . American Journal of Human Genetics . 69 . 6 . 1218–1224 . December 2001 . 11668429 . 1235533 . 10.1086/324651 .
3. Web site: Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia).
4. Web site: Costeff syndrome. Genetics Home Reference. 2017-05-28.
5. Wells T, Davies JR, Guschina IA, Ball DJ, Davies JS, Davies VJ, Evans BA, Votruba M . 6 . Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome . Human Molecular Genetics . 21 . 22 . 4836–4844 . November 2012 . 22869679 . 10.1093/hmg/dds315 . free .