A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

Journal of Medical Genetics

Volumn 49, Issue 12, 2012, Pages 777-784

  Shimazaki, Haruo ^a   Takiyama, Yoshihisa ^b   Ishiura, Hiroyuki ^c   Sakai, Chika ^d   Matsushima, Yuichi ^d   Hatakeyama, Hideyuki ^d   Honda, Junko ^a   Sakoe, Kumi ^a   Naoi, Tametou ^a   Namekawa, Michito ^a   Fukuda, Yoko ^c   Takahashi, Yuji ^c   Goto, Jun ^c   Tsuji, Shoji ^c   Goto, Yu Ichi ^d   Nakano, Imaharu ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF YAMANASHI   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

C12ORF65 PROTEIN; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CELL CULTURE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA DETERMINATION; ENZYME ACTIVITY; FIBROBLAST; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; JAPANESE; MALE; MITOCHONDRION; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; NONSENSE MUTATION; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; STOP CODON;

ADULT; BASE SEQUENCE; DNA COPY NUMBER VARIATIONS; EXOME; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIA; MUTATION; OPTIC ATROPHY; PEDIGREE; PEPTIDE TERMINATION FACTORS; PERIPHERAL NERVOUS SYSTEM DISEASES; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84872042551     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101212     Document Type: Article

References (37)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-5.
2. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999;23:296-303.
3. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-72.
4. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008;7:1127-38.
5. McDermott CJ, Grierson AJ, Wood JD, Bingley M, Wharton SB, Bushby KM, Shaw PJ. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol 2003;54:748-59.
6. Xia CH, Roberts EA, Her LS, Liu X, Williams DS, Cleveland DW, Goldstein LS. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J Cell Biol 2003;161:55-66.
7. Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L, Thorel A, Mouisel E, Fonknechten N, Roblot N, Seilhean D, Dierich A, Hauw JJ, Melki J. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet 2006;15:3544-58.
8. Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol 2007;27:758-67.
9. Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 2005;123:277-89.
10. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Ruqarli EI, Langer T, Gahl WA, Toro C For The Nisc Comparative Sequencing Program. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet 2011;7:e1002325.
11. Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 2004;113:231-42.
12. Joshita Y, Atsumi T, Miyatake T. Two siblings with spastic paraplegia, optic atrophy and peripheral neuropathy. Rinsho Shinkeigaku 1982;22:901-8.
13. Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Miyashita A, Kuwano R, Adachi H, Nakamura E, Tsuji S. SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data. BMC Bioinformatics 2009;10:121.
14. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A. Allegro version 2. Nature Genet 2005;37:1015-16.
15. Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 2004;101:17765-70.
16. Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet 2010;87:75-89.
17. Matsushima Y, Adan C, Garesse R, Kaguni LS. Drosophila mitochondrial transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells. J Biol Chem 2005;280:16815-20.
18. Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 1991;11:2236-44.
19. Hayashi JI, Ohta S, Takai D, Miyabayashi S, Sakuta R, Goto Y, Nonaka I. Accumulation of mtDNA with a Mutation at Position 3271 in tRNALeu(UUR) Gene Introduced from a Melas Patient to HeLa Cells Lacking mtDNA Results in Progressive Inhibition of Mitochondrial Respiratory Function. Biochem Biophys Res Commun 1993;197:1049-55.
20. Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol 2010;68:845-54.
21. Nijtmans LG, Henderson NS, Holt IJ. Blue Native electrophoresis to study mitochondrial and other protein complexes. Methods 2002;26:327-34.
22. D'Aurelio M, Gajewski CD, Lenaz G, Manfredi G. Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids. Hum Mol Genet 2006;15:2157-69.
23. Trounce LA, Kim YL, Jun AS, Wallace DC. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. In: Attardi GM, Chomyn A eds. Methods in enzymology. Vol. 264. San Diego: Academic Press USA, 1996:484-509.
24. Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet 2010;87:115-22.
25. Richter R, Rorbach J, Pajak A, Smith PM, Wessels HJ, Huynen MA, Smeitink JA, Lightowlers RN, Chrzanowska-Lightowlers ZM. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. EMBO J 2010;29:1116-25.
26. Smeitink JA, Elpeleq O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaaq A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 2006;79:869-77.
27. Fornuskova D, Brantova O, Tesarova M, Stiburek L, Honzik T, Wenchich L, Tietzeova E, Hansikova H, Zeman J. The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues. Biochem Biophys Acta 2008;1782:317-25.
28. Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Eur J Hum Genet 2011;19:275-9.
29. Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet 2011;19:394-9.
30. Abramov AY, Smulders-Srinivasan TK, Kirby DM, Acin-Perez R, Enriquez JA, Lightowlers RN, Duchen MR, Turnbull DM. Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain 2010;133:797-807.
31. Park SH, Zhu PP, Parker RL, Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest 2010;120:1097-110.
32. Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 2006;79:365-9.
33. Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 2003;163:777-87.
34. Piemonte F, Casali C, Carrozzo R, Schagger H, Patrono C, Tessa A, Tozzi G, Cricchi F, Di Capua M, Siciliano G, Amabile GA, Morocutti C, Bertini E, Santorelli FM. Respiratory chain defects in hereditary spastic paraplegias. Neuromuscul Disord 2001;11:565-9.
35. McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KM, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. Neuroreport 2003;14:485-8.
36. Castelnovo G, Biolsi B, Barbaud A, Labauge P, Schmitt M. Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia. J Neurol Neurosurg Psychiatry 2000;69:693.
37. Wilkinson PA, Bradley JL, Warner TT. Friedreich's ataxia presenting as an isolated spastic paraparesis. J Neurol Neurosurg Psychiatry 2001;71:707-10.