Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

Journal of Neurology

Volumn 259, Issue 2, 2012, Pages 246-250

  Sánchez Ferrero, Elena ^a   Coto, Eliecer ^a   Corao, Ana I ^a   Díaz, Marta ^a   Gámez, Josep ^b   Esteban, Jesús ^c   Gonzalo, Juan F ^c   Pascual Pascual, Samuel I ^d   De Munaín, Adolfo López ^e   Morís, Germán ^a   Infante, Jon ^f   Del Castillo, Emilia ^g   Márquez, Celedonio ^h   Álvarez, Victoria ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e HOSPITAL DONOSTIA   (Spain)

^f HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^g HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

Complicated phenotype; Haplogroups; Mitochondria; Spastic paraplegia

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; DEGENERATIVE DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GTP-BINDING PROTEINS; HAPLOTYPES; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84856727721     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6155-1     Document Type: Article

References (27)

1. JK Fink 2006 Hereditary spastic paraplegia Curr Neurol Neurosci Rep 6 65 76 16469273 10.1007/s11910-996-0011-1 1:CAS:528:DC%2BD28XhsFSrsrs%3D
2. A Dürr A Camuzat E Colin C Tallaksen D Hannequin P Coutinho, et al. 2004 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia Arch Neurol 61 1867 1872 15596607 10.1001/archneur.61.12.1867
3. G Stevanin M Ruberg A Brice 2008 Recent advances in the genetics of spastic paraplegias Curr Neurol Neurosci Rep 8 198 210 18541115 10.1007/s11910-008-0032-z
4. JJ Hansen A Dürr I Cournu-Rebeix C Georgopoulos D Ang MN Nielsen, et al. 2002 Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 Am J Hum Genet 70 1328 1329 11898127 10.1086/339935 1:CAS:528:DC%2BD38XjsFGnsLs%3D
5. F Piemonte C Casali R Carrozzo H Schägger C Patrono A Tessa, et al. 2001 Respiratory chain defects in hereditary spastic paraplegias Neuromuscul Disord 11 565 569 11525886 10.1016/S0960-8966(01)00214-0 1:STN:280: DC%2BD3MvotlWgsA%3D%3D
6. CJ McDermott RW Taylor C Hayes M Johnson KM Bushby DM Turnbull PJ Shaw 2003 Investigation of mitochondrial function in hereditary spastic paraparesis Neuroreport 14 485 488 12634509 10.1097/00001756-200303030-00038 1:STN:280:DC%2BD3s7itVynuw%3D%3D
7. L Atorino L Silvestri M Koppen L Cassina A Ballabio R Marconi T Langer G Casari 2003 Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia J Cell Biol 163 777 787 14623864 10.1083/jcb.200304112 1:CAS:528: DC%2BD3sXpsVCltrc%3D
8. PA Wilkinson AH Crosby C Turner LJ Bradley L Ginsberg NW Wood AH Schapira TT Warner 2004 A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia Brain 127 973 980 14985266 10.1093/brain/awh125
9. C Verny N Guegen V Desquiret A Chevrollier A Prundean F Dubas, et al. 2011 Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation Mitochondrion 11 70 75 20656066 10.1016/j.mito.2010.07.006 1:CAS:528:DC%2BC3cXhsFGht77L
10. S Salinas C Proukakis A Crosby TT Warner 2008 Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms Lancet Neurol 7 1127 1138 19007737 10.1016/S1474-4422(08)70258-8 1:CAS:528:DC%2BD1cXhsFCrsLvN
11. N Raule F Sevini A Santoro S Altilia C Franceschi 2007 Association studies on human mitochondrial DNA: methodological aspects and results in the most common age-related diseases Mitochondrion 7 29 38 17306632 10.1016/j.mito.2006.11.013 1:CAS:528:DC%2BD2sXisl2rsb4%3D
12. L Arning A Haghikia E Taherzadeh-Fard C Saft J Andrich B Pula, et al. 2010 Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease J Mol Med 88 431 436 20108082 10.1007/s00109-010-0589-2 1:CAS:528:DC%2BC3cXjs1OksL8%3D
13. G Hudson V Carelli L Spruijt M Gerards C Mowbray A Achilli, et al. 2007 Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background Am J Hum Genet 81 228 233 17668373 10.1086/519394 1:CAS:528:DC%2BD2sXptVygsr8%3D
14. A Ghelli AM Porcelli C Zanna S Vidoni S Mattioli A Barbieri, et al. 2009 The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber' hereditary optic neuropathy cells to 2, 5-hexanedione toxicity PLoS One 4 e7922 19936068 10.1371/journal.pone.0007922
15. K Tonska A Kodron E Bartnik 2010 Genotype-phenotype correlations in Leber hereditary optic neuropathy Biochim Biophys Acta 797 1119 1123
16. A Marcuello D Martínez-Redondo Y Dahmani JA Casajús E Ruiz-Pesini J Montoya MJ López-Pérez C Díez-Sánchez 2009 Human mitochondrial variants influence on oxygen consumption Mitochondrion 9 27 30 18952007 10.1016/j.mito.2008.10.002 1:CAS:528:DC%2BD1MXktlehtb0%3D
17. D Martinez-Redondo A Marcuello JA Casajus I Ara Y Dahmani J Montoya, et al. 2010 Human mitochondrial haplogroup H: the highest VO2max consumer-is it a paradox? Mitochondrion 10 102 107 19900587 10.1016/j.mito.2009.11.005 1:CAS:528:DC%2BC3cXmtlaqsLk%3D
18. A Gómez-Durán D Pacheu-Grau E López-Gallardo C Díez-Sánchez J Montoya MJ López-Pérez E Ruiz-Pesini 2010 Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups Hum Mol Genet 19 3343 3353 20566709 10.1093/hmg/ddq246
19. V Alvarez E Sánchez-Ferrero C Beetz M Díaz B Alonso AI Corao, et al. 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia BMC Neurol 10 e89
20. C Huerta MG Castro E Coto M Blazquez R Ribacoba LM Guisasola, et al. 2005 Mitochondrial DNA polymorphisms and risk of Parkinson' disease in Spanish population J Neurol Sci 236 49 54 15975594 10.1016/j.jns.2005.04.016 1:CAS:528:DC%2BD2MXpsVWktrw%3D
21. MG Castro C Huerta JR Reguero MI Soto E Domenech V Alvarez, et al. 2006 Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy Int J Cardiol 112 202 206 16313983 10.1016/j.ijcard.2005.09.008
22. M Palacín V Alvarez M Martín M Díaz AI Corao B Alonso, et al. 2010 Mitochondrial DNA and TFAM gene variation in early onset myocardial infarction: evidence for an association to haplogroup H Mitochondrion 11 176 181 20863902 10.1016/j.mito.2010.09.004
23. I Arnold T Langer 2002 Membrane protein degradation by AAA proteases in mitochondria Biochim Biophys Acta 1592 89 96 12191771 10.1016/S0167-4889(02) 00267-7 1:CAS:528:DC%2BD38XmtlCqs7s%3D
24. AH Crosby H Patel BA Chioza C Proukakis K Gurtz MA Patton, et al. 2010 Defective mitochondrial mRNA maturation is associated with spastic ataxia Am J Hum Genet 87 655 660 20970105 10.1016/j.ajhg.2010.09.013 1:CAS:528: DC%2BC3cXhsVaitLnF
25. JM van der Walt KK Nicodemus ER Martin, et al. 2003 Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease Am J Hum Genet 72 804 811 12618962 10.1086/373937
26. DK Simon K Zheng L Velázquez N Santos L Almaguer KP Figueroa SM Pulst 2007 Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2 Arch Neurol 64 1042 1044 17620498 10.1001/archneur.64.7.1042
27. AA Kazuno K Munakata T Nagai S Shimozono M Tanaka M Yoneda N Kato A Miyawaki T Kato 2006 Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intra-cellular calcium dynamics PLoS Genet 2 e128 16895436 10.1371/journal.pgen.0020128