New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Pierron, Denis ^a,b,c   Rocher, Christophe ^c   Amati Bonneau, Patricia ^c   Reynier, Pascal ^c   Martin Négrier, Marie Laure ^d   Allouche, Stéphane ^e   Batandier, Cécile ^f   de Camaret, Benedicte ^g   Godinot, Catherine ^h   Rotig, Agnes ⁱ   Feldmann, Delphine ^j   Bellanne Chantelot, Christine ^k   Arveiler, Benoit ^a   Pennarun, Erwann ^l   Rossignol, Rodrigue ^c   Crouzet, Marc ^b   Murail, Pascal ^a   Thoraval, Didier ^b   Letellier, Thierry ^c  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b Institut de Biochimie et Genetique Cellulaires   (France)

^c INSERM   (France)

^d BORDEAUX UNIVERSITY HOSPITAL   (France)

^e UNIVERSITÉ DE CAEN   (France)

^f GRENOBLE UNIVERSITY HOSPITAL   (France)

^g HÔPITAL DEBROUSSE   (France)

^h CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j ARMAND TROUSSEAU HOSPITAL   (France)

^k HÔPITAL SAINT ANTOINE   (France)

^l UNIVERSITY OF TARTU   (Estonia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; DNA; LEUCINE TRANSFER RNA;

ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; EMBRYO CELL; FRANCE; GENE MUTATION; GENETIC SELECTION; GERM CELL; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MELAS SYNDROME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; BLOOD; CAUCASIAN; CLINICAL TRIAL; COHORT ANALYSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; ISOLATION AND PURIFICATION; MULTICENTER STUDY; MUTATION; PHYLOGENY; SINGLE NUCLEOTIDE POLYMORPHISM;

COHORT STUDIES; DNA; DNA, MITOCHONDRIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FRANCE; HAPLOTYPES; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; PHYLOGENY; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, TRANSFER, LEU;

EID: 44949150123     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-41     Document Type: Article

References (50)

1. DiMauro S Schon EA: Mitochondrial respiratory-chain diseases. N Engl J Med 2003, 348(26):2656-2668. 10.1056/NEJMra022567 12826641
2. Wallace DC: The mitochondrial genome in human adaptive radiation and disease: On the road to therapeutics and performance enhancement. Gene 2005, 354:169-180. 10.1016/j.gene.2005.05.001 16024186
3. Schapira AH: Mitochondrial disease. Lancet 2006, 368(9529):70-82. 10.1016/S0140-6736(06)68970-8 16815381
4. Cann RL Stoneking M Wilson AC: Mitochondrial DNA and human evolution. Nature 1987, 325(6099):31-36. 10.1038/325031a0 3025745
5. Torroni A Achilli A Macaulay V Richards M Bandelt HJ: Harvesting the fruit of the human mtDNA tree. Trends Genet 2006, 22(6):339-345. 10.1016/ j.tig.2006.04.001 16678300
6. Richards M: The neolithic invasion of europe. Annual Review of Anthropology 2003, 32:135-162. 10.1146/annurev.anthro.32.061002.093207
7. Torroni A Schurr TG Cabell MF Brown MD Neel JV Larsen M Smith DG Vullo CM Wallace DC: Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 1993, 53(3):563-590. 1682412 7688932
8. Wallace DC Brown MD Lott MT: Mitochondrial DNA variation in human evolution and disease. Gene 1999, 238(1):211-230. 10.1016/ S0378-1119(99)00295-4 10570998
9. Ruiz-Pesini E Mishmar D Brandon M Procaccio V Wallace DC: Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 2004, 303(5655):223-226. 10.1126/science.1088434 14716012
10. Herrnstadt C Howell N: An evolutionary perspective on pathogenic mtDNA mutations: Haplogroup associations of clinical disorders. Mitochondrion 2004, 4(5-6):791-798. 10.1016/j.mito.2004.07.041 16120433
11. Brown MD Sun F Wallace DC: Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997, 60(2):381-387. 1712415 9012411
12. Carelli V Achilli A Valentino ML Rengo C Semino O Pala M Olivieri A Mattiazzi M Pallotti F Carrara F Zeviani M Leuzzi V Carducci C Valle G Simionati B Mendieta L Salomao S Belfort R Jr. Sadun AA Torroni A: Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 2006, 78(4):564-574. 1424694 16532388 10.1086/501236
13. Torroni A Petrozzi M D'Urbano L Sellitto D Zeviani M Carrara F Carducci C Leuzzi V Carelli V Barboni P De Negri A Scozzari R: Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997, 60(5):1107-1121. 1712418 9150158
14. Lamminen T Huoponen K Sistonen P Juvonen V Lahermo P Aula P Nikoskelainen E Savontaus ML: MtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy. Eur J Hum Genet 1997, 5(5):271-279. 9412783
15. Hofmann S Jaksch M Bezold R Mertens S Aholt S Paprotta A Gerbitz KD: Population genetics and disease susceptibility: Characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 1997, 6(11):1835-1846. 10.1093/hmg/6.11.1835 9302261
16. Goto Y Nonaka I Horai S: A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348(6302):651-653. 10.1038/348651a0 2102678
17. Kobayashi Y Momoi MY Tominaga K Shimoizumi H Nihei K Yanagisawa M Kagawa Y Ohta S: Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am J Hum Genet 1991, 49(3):590-599. 1683152 1715668
18. Kobayashi Y Momoi MY Tominaga K Momoi T Nihei K Yanagisawa M Kagawa Y Ohta S; A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990, 173(3):816-822. 10.1016/S0006-291X(05)80860-5 2268345
19. van den Ouweland JM Lemkes HH Ruitenbeek W Sandkuijl LA de Vijlder MF Struyvenberg PA van de Kamp JJ Maassen JA: Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992, 1(5):368-371. 10.1038/ ng0892-368 1284550
20. Moraes CT Ciacci F Silvestri G Shanske S Sciacco M Hirano M Schon EA Bonilla E DiMauro S: Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993, 3(1):43-50. 10.1016/0960-8966(93)90040-Q 8392410
21. Jean-Francois MJ Lertrit P Berkovic SF Crimmins D Morris J Marzuki S Byrne E: Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. Aust N Z J Med 1994, 24(2):188-193. 8042948
22. van den Ouweland JM Maechler P Wollheim CB Attardi G Maassen JA: Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease. Diabetologia 1999, 42(4):485-492. 10.1007/s001250051183 10230654
23. Deschauer M Muller T Wieser T Schulte-Mattler W Kornhuber M Zierz S: Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Arch Neurol 2001, 58(11):1885-1888. 10.1001/ archneur.58.11.1885 11708999
24. Chomyn A Enriquez JA Micol V Fernandez-Silva P Attardi G: The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem 2000, 275(25):19198-19209. 10.1074/ jbc.M908734199 10858457
25. Kirino Y Goto Y Campos Y Arenas J Suzuki T: Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A 2005, 102(20):7127-7132. 1129107 15870203 10.1073/pnas.0500563102
26. Liu CS Cheng WL Chen YY Ma YS Pang CY Wei YH: High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. Ann N Y Acad Sci 2005, 1042:82-87. 10.1196/annals.1338.058 15965049
27. Pulkes T Sweeney MG Hanna MG: Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Lancet 2000, 356(9247):2068-2069. 10.1016/S0140-6736(00)03408-5 11145497
28. Deschauer M Chinnery PF Schaefer AM Turnbull DM Taylor RW Zierz S Shanske S DiMauro S Majamaa K Wilichowski E Thorburn DR: No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. J Neurol Neurosurg Psychiatry 2004, 75(8):1204-1205. 1739175 15258237 10.1136/ jnnp.2003.026278
29. Torroni A Campos Y Rengo C Sellitto D Achilli A Magri C Semino O Garcia A Jara P Arenas J Scozzari R: Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. Am J Hum Genet 2003, 72(4):1005-1012. 1180329 12612863 10.1086/373936
30. Samuels DC Carothers AD Horton R Chinnery PF: The power to detect disease associations with mitochondrial DNA haplogroups. Am J Hum Genet 2006, 78(4):713-720. 1424681 16532401 10.1086/502682
31. Achilli A Rengo C Battaglia V Pala M Olivieri A Fornarino S Magri C Scozzari R Babudri N Santachiara-Benerecetti AS Bandelt HJ Semino O Torroni A: Saami and Berbers - an unexpected mitochondrial DNA link. Am J Hum Genet 2005, 76(5):883-886. 1199377 15791543 10.1086/430073
32. Achilli A Rengo C Magri C Battaglia V Olivieri A Scozzari R Cruciani F Zeviani M Briem E Carelli V Moral P Dugoujon JM Roostalu U Loogvali EL Kivisild T Bandelt HJ Richards M Villems R Santachiara-Benerecetti AS Semino O Torroni A: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 2004, 75(5):910-918. 1182122 15382008 10.1086/425590
33. Kivisild T Shen P Wall DP Do B Sung R Davis K Passarino G Underhill PA Scharfe C Torroni A Scozzari R Modiano D Coppa A de Knijff P Feldman M Cavalli-Sforza LL Oefner PJ: The role of selection in the evolution of human mitochondrial genomes. Genetics 2006, 172(1):373-387. 1456165 16172508 10.1534/genetics.105.043901
34. PalanichamyMG Sun C Agrawal S Bandelt HJ Kong QP Khan F Wang CY Chaudhuri TK Palla V Zhang YP: Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: Implications for the peopling of South Asia. Am J Hum Genet 2004, 75(6):966-978. 1182158 15467980 10.1086/425871
35. Dubut V Chollet L Murail P Cartault F Beraud-Colomb E Serre M Mogentale-Profizi N: MtDNA polymorphisms in five French groups: importance of regional sampling. Eur J Hum Genet 2004, 12(4):2930-300. 10.1038/sj.ejhg.5201145 14694359
36. Richard C Pennarun E Kivisild T Tambets K Tolk HV Metspalu E Reidla M Chevalier S Giraudet S Lauc LB Pericic M Rudan P Claustres M Journel H Dorval I Muller C Villems R Chaventre A Moisan JP: An mtDNA perspective of french genetic variation. Ann Hum Biol 2007, 34(1):68-79. 10.1080/ 03014460601076098 17536756
37. Miettinen O Nurminen M: Comparative analysis of two rates. Stat Med 1985, 4(2):213-226. 10.1002/sim.4780040211 4023479
38. Loogvali EL Roostalu U Malyarchuk BA Derenko MV Kivisild T Metspalu E Tambets K Reidla M Tolk HV Parik J Pennarun E Laos S Lunkina A Golubenko M Barac L Pericic M Balanovsky OP Gusar V Khusnutdinova EK Stepanov V Puzyrev V Rudan P Balanovska EV Grechanina E Richard C Moisan JP Chaventre A Anagnou NP Pappa KI Michalodimitrakis EN Claustres M Golge M Mikerezi I UsangaAE Villems R: Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 2004, 21(11):2012-2021. 10.1093/molbev/msh209 15254257
39. van der Walt JM Nicodemus KK Martin ER Scott WK Nance MA Watts RL Hubble JP Haines JL Koller WC Lyons K Pahwa R Stern MB Colcher A Hiner BC Jankovic J Ondo WG Allen FH Jr. Goetz CG Small GW Mastaglia F Stajich JM McLaurin AC Middleton LT Scott BL Schmechel DE Pericak-Vance MA Vance JM: Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 2003, 72(4):804-811. 1180345 12618962 10.1086/373937
40. Majamaa K Moilanen JS Uimonen S Remes AM Salmela PI Karppa M Majamaa-Voltti KA Rusanen H Sorri M Peuhkurinen KJ Hassinen IE: Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am J Hum Genet 1998, 63(2):447-454. 1377301 9683591 10.1086/301959
41. Wallace DC: Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A 1994, 91(19):8739-8746. 44682 8090716 10.1073/pnas.91.19.8739
42. Schaefer AM Taylor RW Turnbull DM Chinnery PF: The epidemiology of mitochondrial disorders - past, present and future. Biochim Biophys Acta 2004, 1659(2-3):115-120. 10.1016/j.bbabio.2004.09.005 15576042
43. Nishigaki Y Tadesse S Bonilla E Shungu D Hersh S Keats BJ Berlin CI Goldberg MF Vockley J DiMauro S Hirano M: A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscul Disord 2003, 13(4):334-340. 10.1016/ S0960-8966(02)00283-3 12868503
44. Moraes CT Ciacci F Bonilla E Jansen C Hirano M Rao N Lovelace RE Rowland LP Schon EA DiMauro S: Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?. J Clin Invest 1993, 92(6):2906-2915. 288494 8254046 10.1172/JCI116913
45. Martin M Cho J Cesare AJ Griffith JD Attardi G: Termination factor-mediated DNA loop between termination and initiation sites drives mitochondrial rRNA synthesis. Cell 2005, 123(7):1227-1240. 10.1016/ j.cell.2005.09.040 16377564
46. Mohlke KL Jackson AU Scott LJ Peck EC Suh YD Chines PS Watanabe RM Buchanan TA Conneely KN Erdos MR Narisu N Enloe S Valle TT Tuomilehto J Bergman RN Boehnke M Collins FS: Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns. Hum Genet 2005, 118(2):245-254. 10.1007/s00439-005-0046-4 16142453
47. Reynier P Penisson-Besnier I Moreau C Savagner F Vielle B Emile J Dubas F Malthiery Y:AMtDNA haplogroup J: a contributing factor of optic neuritis. Eur J Hum Genet 1999, 7(3):404-406. 10.1038/sj.ejhg.5200293 10234520
48. Rose G Passarino G Carrieri G Altomare K Greco V Bertolini S Bonafe M Franceschi C De BeSedictis G: Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. Eur J Hum Genet 2001, 9(9):701-707. 10.1038/sj.ejhg.5200703 11571560
49. De Benedictis G Rose G Carrieri G De Luca M Falcone E Passarino G Bonafe M Monti D Baggio G Bertolini S Mari D Mattace R Franceschi C; Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. Faseb J 1999, 13(12):1532-1536. 10463944
50. Marchington DR Poulton J Sellar A Holt IJ: Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?. Hum Mol Genet 1996, 5(4):473-479. 10.1093/hmg/5.4.473 8845839