Complete mtDNA genomes reveal similar penetrances of maternally inherited type 2 diabetes in two Chinese families

References

• Adzhubei I, Jordan DM, Sunyaev SR. (2013). Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. Chapter 7: Unit 20
   PubMedGoogle Scholar
• Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. (1999). Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
   PubMed Web of Science ®Google Scholar
• Association AD. (2008). Diagnosis and classification of diabetes mellitus. Diabetes Care 31:S55–60
   PubMed Web of Science ®Google Scholar
• Bandelt HJ, Salas A, Taylor RW, Yao YG. (2009). Exaggerated status of “novel” and “pathogenic” mtDNA sequence variants due to inadequate database searches. Hum Mutat 30:191–6
   PubMed Web of Science ®Google Scholar
• Bodmer W, Bonilla C. (2008). Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40:695–701
   PubMed Web of Science ®Google Scholar
• Crispim D, Canani L, Gross J, Tschiedel B, Souto K, Roisenberg I. (2006). The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes: An analysis of the m. 4216T > C and m. 4917A > G variants. Ann Hum Genet 70:488–95
   PubMed Web of Science ®Google Scholar
• Goto Y-i, Nonaka I, Horai S. (1990). A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651–3
   PubMed Web of Science ®Google Scholar
• Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT. (1995). Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet 56:1017–25
   PubMed Web of Science ®Google Scholar
• Holt I, Harding A, Petty R, Morgan-Hughes J. (1990). A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428–33
   PubMed Web of Science ®Google Scholar
• Johns DR, Neufeld MJ, Park RD. (1992). An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophl Res Co 187:1551–7
   PubMed Web of Science ®Google Scholar
• King H, Aubert RE, Herman WH. (1998). Global burden of diabetes, 1995–2025: Prevalence, numerical estimates, and projections. Diabetes Care 21:1414–31
   PubMed Web of Science ®Google Scholar
• Lin Y, Sun Z. (2010). Current views on type 2 diabetes. J Endocrinol 204:1–11
   PubMed Web of Science ®Google Scholar
• Liou CW, Chen JB, Tiao MM, Weng SW, Huang TL, Chuang JH, Chen SD, et al. (2012). Mitochondrial DNA coding and control region variants as genetic risk factors for Type 2 diabetes. Diabetes 61:2642–51
   PubMed Web of Science ®Google Scholar
• Lowell BB, Shulman GI. (2005). Mitochondrial dysfunction and type 2 diabetes. Science 307:384–7
   PubMed Web of Science ®Google Scholar
• O'Rahilly S, Barroso I, Wareham NJ. (2005). Genetic factors in type 2 diabetes: The end of the beginning? Science 307:370–3
   PubMed Web of Science ®Google Scholar
• Pei H, Peng Q, Lan C, Chi Liu B. (2014). Variations in mitochondrial tRNAThr gene may not be associated with coronary heart disease. Mitochondrial DNA [Epub ahead of print]. doi: 10.3109/19401736.2014.905862
   Web of Science ®Google Scholar
• Poulton J, Luan Ja, Macaulay V, Hennings S, Mitchell J, Wareham NJ. (2002). Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case–control study. Hum Mol Genet 11:1581–3
   PubMed Web of Science ®Google Scholar
• Prezant TR, Agapian JV, Bohlman MC, Bu X, Öztas S, Qiu W-Q, Arnos KS, et al. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non-syndromic deafness. Nat Genet 4:289–94
   PubMed Web of Science ®Google Scholar
• Qin Y, Xue L, Jiang P, Xu M, He Y, Shi S, Huang Y, et al. (2014). Mitochondrial tRNA variants in Chinese subjects with coronary heart disease. J Am Heart Assoc 3:e000437
   PubMed Web of Science ®Google Scholar
• Rolo AP, Palmeira CM. (2006). Diabetes and mitochondrial function: Role of hyperglycemia and oxidative stress. Toxicol Appl Pharm 212:167–78
   PubMed Web of Science ®Google Scholar
• Shoffner JM, Lott MT, Lezza A, Seibel P, Ballinger SW, Wallace DC. (1990). Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61:931–7
   PubMed Web of Science ®Google Scholar
• Suzuki Y, Taniyama M, Muramatsu T, Atsumi Y, Hosokawa K, Asahina T, Shimada A, et al. (1997). Diabetes mellitus associated with 3243 mitochondrial tRNALeu(UUR) mutation: Clinical features and coenzyme Q10 treatment. Mol Aspects Med 18:181–8
   Web of Science ®Google Scholar
• Tanaka D, Nagashima K, Sasaki M, Funakoshi S, Kondo Y, Yasuda K, Koizumi A, Inagaki N. (2013). Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes. Mol Genet Metab 109:112–17
   PubMed Web of Science ®Google Scholar
• Van den Ouweland J, Lemkes H, Ruitenbeek W, Sandkuijl L, De Vijlder M, Struyvenberg P, Van de Kamp J, Maassen J. (1992). Mutation in mitochondrial tRNALeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368–71
   PubMed Web of Science ®Google Scholar
• Van Oven M, Kayser M. (2009). Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30:386–94
   PubMed Web of Science ®Google Scholar
• Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza A, Elsas LJ, Nikoskelainen EK. (1988). Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427–30
   PubMed Web of Science ®Google Scholar
• Wang HW, Jia X, Ji Y, Kong QP, Zhang Q, Yao YG, Zhang YP. (2008). Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A. Mutat Res-Fund Mol M 643:48–53
   PubMed Web of Science ®Google Scholar
• Xu Y, Wang L, He J, Bi Y, Li M, Wang T, Wang L, et al. (2013). Prevalence and control of diabetes in Chinese adults. J Am Med Assoc 310:948–59
   PubMed Web of Science ®Google Scholar
• Zhong S, Ng MC, Lo YD, Chan JC, Johnson PJ. (2000). Presence of mitochondrial tRNALeu (UUR) A to G 3243 mutation in DNA extracted from serum and plasma of patients with type 2 diabetes mellitus. J Clin Pathol 53:466–9
   PubMed Web of Science ®Google Scholar