Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

BMC Research Notes

Volumn 5, Issue , 2012, Pages

  Soini, Heidi K ^a,b   Moilanen, Jukka S ^a   Finnila, Saara ^a   Majamaa, Kari ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

diabetes; m.16189T>C; Maternal inheritance; Mitochondrial DNA; Mitochondrial DNA haplogroups

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; ND5 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; CASE CONTROL STUDY; DNA SEQUENCE; FEMALE; FINLAND; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HEREDITY; HUMAN; MALE; MIDDLE AGED; MOLECULAR GENETICS; MOTHER; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; RISK ASSESSMENT; RISK FACTOR;

ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 2; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEREDITY; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MOTHERS; PEDIGREE; POLYMORPHISM, GENETIC; RISK ASSESSMENT; RISK FACTORS; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84863581373     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-5-350     Document Type: Article

References (49)

1. Mitochondrial respiratory-chain diseases. DiMauro S, Schon EA, N Engl J Med 2003 348 2656 2668 10.1056/NEJMra022567 12826641 (Pubitemid 36741594)
2. Mechanisms of mitochondrial diseases. Ylikallio E, Suomalainen A, Ann Med 2011 1 19 online article http://informahealthcare.com/doi/abs/10.3109/07853890. 2011.598547
3. Phylogenetic network of European mtDNA. Finnilä S, Lehtonen MS, Majamaa K, Am J Hum Genet 2001 68 1475 1484 10.1086/320591 11349229 (Pubitemid 32510623)
4. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Niemi AK, Hervonen A, Hurme M, Karhunen PJ, Jylhä M, Majamaa K, Hum Genet 2003 112 29 33 10.1007/s00439-002-0843-y 12483296 (Pubitemid 36869112)
5. Structural and functional organization of the mitochondrial respiratory chain: a dynamic super-assembly. Lenaz G, Genova ML, Int J Biochem Cell Biol 2009 10 1750 1772
6. Mitochondrial tRNA 3 end metabolism and disease. Lenaz G, Mörl M, Florentz C, Nucleic Acids Res 2004 32 5430 5441 10.1093/nar/gkh884 15477393 (Pubitemid 39545660)
7. Phylogenetic network and physicochemical properties of nonsynonymous mutations in the protein-coding genes of human mitochondrial DNA. Moilanen JS, Majamaa K, Mol Biol Evol 2003 20 1195 1210 10.1093/molbev/msg121 12777521 (Pubitemid 36961238)
8. Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole. Achilli A, Olivieri A, Pala M, Kashani BH, Carossa V, Perego UA, Gandifi F, Santoro A, Battaglia V, Grugni V, Lancioni H, Sirolla C, Bonfigli AR, Cormio A, Boemi M, Testa I, Semino O, Ceriello A, Spazzafumo L, Gadaleta MN, Marra M, Testa R, Franceschi C, Torroni A, PLoS One 2011 6 21029 10.1371/journal.pone.0021029 21695278
9. Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Moilanen JS, Finnilä S, Majamaa K, Mol Biol Evol 2003 20 2132 2142 10.1093/molbev/msg230 12949126 (Pubitemid 38057777)
10. Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. Elson JL, Turnbull DM, Howell N, Am J Hum Genet 2004 74 229 238 10.1086/381505 14712420 (Pubitemid 38168611)
11. Maternal transmission of diabetes. Alcolado JC, Laji K, Gill-Randall R, Diabet Med 2002 19 89 98 10.1046/j.1464-5491.2002.00675.x 11874423 (Pubitemid 34225221)
12. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA, Diabetes 1994 43 746 751 10.2337/diabetes.43. 6.746 7910800
13. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KA, Rusanen H, Sorri M, Peuhkurinen KJ, Hassinen IE, Am J Hum Genet 1998 63 447 454 10.1086/301959 9683591 (Pubitemid 30418626)
14. Association between a common mitochondrial DNA D-loop polycytocine variant and alteration of mitochondrial copy number in human peripheral blood cells. Liou CW, Lin TK, Chen JB, Tiao MM, Weng SW, Chen SD, Chuang YC, Wang PW, J Med Genet 2010 47 723 728 10.1136/jmg.2010.077552 20837494
15. A common mitochondrial DNA variant is associated with thinness in mothers and their 20-yr-old offspring. Parker E, Phillips DI, Cockington RA, Cull C, Poulton J, Am J Physiol Endocrinol Metab 2005 6 1110 1114
16. Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. Casteels K, Ong K, Phillips D, Bendall H, Pembrey M, Lancet 1999 353 1499 1500 10.1016/S0140-6736(98)05817-6 10232327 (Pubitemid 29204379)
17. A common mitochondrial DNA variant and increased body mass index as associated factors for development of type 2 diabetes: Additive effects of genetic and environmental factors. Liou CW, Lin TK, Huei Weng H, Lee CF, Chen TL, Wei YH, Chen SD, Chuang YC, Weng SW, Wang PW, J Clin Endocrinol Metab 2007 92 235 239 17032725
18. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Poulton J, Luan J, Macaulay V, Hennings S, Mitchell J, Wareham NJ, Hum Mol Genet 2002 11 1581 1583 10.1093/hmg/11.13.1581 12045211 (Pubitemid 34679258)
19. A mitochondrial variant at position 16189 is associated with type 2 diabetes mellitus in Asians. Park KS, Chan JC, Chuang L-M, Suzuki S, Araki E, Nanjo K, Ji L, Ng M, Nishi M, Furuta H, Shirotani T, Ahn BY, Chung SS, Min H-K, Lee SW, Kim JH, Cho YM, Lee HK, Diabetologia 2008 51 602 608 10.1007/s00125-008-0933-z 18251004
20. Association of mitochondrial deoxyribonucleic acid 16189 variant (T>C transition) with metabolic syndrome in Chinese adults. Weng SW, Liou CW, Lin TK, Wei YH, Lee CF, Eng HL, Chen SD, Liu RT, Chen JF, Chen IY, Chen MH, Wang PW, J Clin Endocrinol Metab 2005 90 5037 5040 10.1210/jc.2005-0227 15972579 (Pubitemid 41262251)
21. Family history and recurrence of febrile seizures. Van Esch A, Steyerberg EW, Berger MY, Offringa M, Derksen-Lubsen G, Habbema JDF, Arch Dis Child 1994 70 395 399 10.1136/adc.70.5.395 8017960 (Pubitemid 24183476)
22. Evidence for mtDNA admixture between the Finns and the Saami. Meinilä M, Finnilä S, Majamaa K, Hum Hered 2001 52 160 170 10.1159/000053372 11588400 (Pubitemid 34701502)
23. Classification of European mtDNAs from an analysis of three European populations. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC, Genetics 1996 144 1835 1850 8978068 (Pubitemid 26427929)
24. Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis. Finnilä S, Hassinen IE, Ala-Kokko L, Majamaa K, Am J Hum Genet 2000 66 1017 1026 10.1086/302802 10712215 (Pubitemid 30470502)
25. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L, Proc Natl Acad Sci USA 1998 95 1681 1685 10.1073/pnas.95.4.1681 9465076 (Pubitemid 28103453)
26. Convenient single-step, one tube purification of PCR products for direct sequencing. Werle E, Schneider C, Renner M, Völker M, Fiehn W, Nucleic Acids Res 1994 22 4354 4355 10.1093/nar/22.20.4354 7937169 (Pubitemid 24322750)
27. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N, Nat Genet 1999 23 147 10.1038/13779 10508508 (Pubitemid 29455385)
28. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Tanaka M, Cabrera VM, Gonzalez AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H, Genome Res 2004 14 10A 1832 1850 10.1101/gr.2286304 15466285 (Pubitemid 39386497)
29. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Ingman M, Gyllensten U, Nucleic Acids Res 2006 34 749 D751 10.1093/nar/gkj010 16381973
30. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC, Nucleic Acids Res 2007 35 823 D828 10.1093/nar/gkl927 17178747 (Pubitemid 46056316)
31. Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures. Pütz J, Dupuis B, Sissler M, Florentz C, RNA 2007 13 1184 1190 10.1261/rna.588407 17585048 (Pubitemid 47080463)
32. A method and server for predicting damaging missense mutations. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR, Nat Methods 2010 7 248 249 10.1038/nmeth0410-248 20354512
33. The PredictProtein Server. Rost B, Yachdav G, Liu J, Nucleic Acids Res 2003 32 Web Server issue 321 W326
34. Mitochondrial portraits of human populations using median networks. Bandelt HJ, Forster P, Sykes BC, Richards MB, Genetics 1995 141 743 753 8647407
35. The western and eastern roots of the Saamithe story of genetic outliers told by mitochondrial DNA and Y choromosomes. Tambets K, Rootsi S, Kivisild T, Help H, Serk P, Loogväli EL, Tolk HV, Reidla M, Metspalu E, Pliss L, Balanovsky O, Pshenichnov A, Balanovska E, Gubina M, Zhadanov S, Osipova L, Damba L, Voevoda M, Kutuev I, Bermisheva M, Khusnutdinova E, Gusar V, Grechanina E, Parik J, Pennarun E, Richard C, Chaventre A, Moisan JP, Barac L, Pericic M, Rudan P, Terzic R, Mikerezi I, Krumina A, Baumanis V, Koziel S, Rickards O, De Stefano GS, Anagnou N, Pappa KI, Michalodimitrakis E, Ferak V, Furedi S, Komel R, Beckman L, Villems R, Am J Hum Genet 2004 74 661 682 10.1086/383203 15024688 (Pubitemid 38420096)
36. Lifestyle, genetics and disease in Sami. Ross AB, Johansson A, Ingman M, Gyllensten U, Croat Med J 2006 47 553 565 16909452
37. Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Palanichamy MG, Sun C, Agrawal S, Bandelt HJ, Kong QP, Khan F, Wang CY, Chaudhuri TK, Palla V, Zhang YP, Am J Hum Genet 2004 75 966 978 10.1086/425871 15467980 (Pubitemid 39532067)
38. Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy. Kirches E, Winkler K, Vielhaber S, Michael M, Warich-Kirches M, von Bossanyi P, Plate I, Kunz WS, Szibor R, Feistner H, Dietzmann K, Pathobiology 1999 67 214 218 10.1159/000028075 10738184 (Pubitemid 30071809)
39. Mitochondrial tRNA 3 end metabolism and disease. Levinger L, Mörl M, Florentz C, Nucleic Acids Res 2004 32 5430 5441 10.1093/nar/gkh884 15477393 (Pubitemid 39545660)
40. Assigning pathogenicity to mitochondrial tRNA mutations: when definitely maybe is not good enough. McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM, Trends Genet 2004 20 591 596 10.1016/j.tig.2004.09.014 15522452 (Pubitemid 39441275)
41. Increased variation in mtDNA in patients with familial sensorineural hearing impairment. Lehtonen MS, Moilanen JS, Majamaa K, Hum Genet 2003 113 220 227 10.1007/s00439-003-0966-9 12802679 (Pubitemid 36992280)
42. A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinsons disease. Khusnutdinova E, Gilyazova I, Ruiz-Pesini E, Derbeneva O, Khusainova R, Khidiyatova I, Magzhanov R, Wallace DC, Ann NY Acad Sci 2008 1148 1 20 10.1196/annals.1410.082 19120088
43. mtDNA mutations increase tumorigenicity in prostate cancer. Petros JA, Baumann AK, Ruiz-Pesini E, Amin MB, Sun CQ, Hall J, Lim S, Issa MM, Flanders WD, Hosseini SH, Marshall FF, Wallace DC, Proc Natl Acad Sci USA 2005 102 719 724 10.1073/pnas.0408894102 15647368 (Pubitemid 40282732)
44. Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Varlamov DA, Kudin AP, Vielhaber S, Schröder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS, Hum Mol Genet 2002 11 1797 1805 10.1093/hmg/11.16.1797 12140182
45. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N, Am J Hum Genet 2002 70 1152 1171 10.1086/339933 11938495 (Pubitemid 34450567)
46. Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31years. Das S, Bennett AJ, Sovio U, Ruokonen A, Martikainen H, Pouta A, Hartikainen A-L, Franks S, Elliott P, Poulton J, Järvelin M-R, McCarthy MI, J Clin Endocrinol Metab 2007 92 3219 3223 10.1210/jc.2007-0702 17535991 (Pubitemid 47236395)
47. Mitochondrial polymorphisms and susceptibility to type 2 diabetes -related traits in Finns. 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, Hum Genet 2005 118 245 254 10.1007/s00439-005-0046-4 16142453 (Pubitemid 41672086)
48. Disuniting Uniformity: A pied cladistic canvas of mtDNA haplogroup H in Eurasia. Loogväli E-L, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, Metspalu E, Tambets K, Reidla M, Tolk H-V, Parik J, Pennarun E, Laos S, Lunkina A, Golubenko M, Barác L, Pericic M, Balanovsky OP, Gusar V, Khusnitdinova EK, Stepanov V, Puzyrev V, Rudan P, Balanovska EV, Grechanina E, Richard C, Moisan J-P, Chaventré A, Anagnou NP, Pappa KI, Michalodimitrakis EN, Claustres M, Gölge M, Mikerezi I, Usanga E, Villems R, Mol Biol Evol 2004 21 2012 2021 10.1093/molbev/msh209 15254257 (Pubitemid 39391978)
49. Mitochondrial haplogroups associated with lifestyle-related diseases and longevity in the Japanese population. Nishigaki Y, Fuku N, Tanaka M, Geriatr Gerontol Int 2010 10 221 S235 20590837