• LeBoff MS, Greenspan SL, Insogna KL, Lewiecki EM, Saag KG, Singer AJ, et al. The clinician’s guide to prevention and treatment of osteoporosis. Osteoporos Int. 2022;33(10):2049–102. https://doi.org/10.1007/s00198-021-05900-y. This is a comprehensive review of current state of osteoporosis research and clinical management.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sözen T, Özışık L, Başaran N. An overview and management of osteoporosis. Eur J Rheumatol. 2017;4(1):46–56. https://doi.org/10.5152/eurjrheum.2016.048.

Article  PubMed  Google Scholar 

Rashki Kemmak A, Rezapour A, Jahangiri R, Nikjoo S, Farabi H, Soleimanpour S. Economic burden of osteoporosis in the world: a systematic review. Med J Islam Repub Iran. 2020;34:154. https://doi.org/10.34171/mjiri.34.154.

Article  PubMed  PubMed Central  Google Scholar 

Noh JY, Yang Y, Jung H. Molecular mechanisms and emerging therapeutics for osteoporosis. Int J Mol Sci. 2020;21(20) https://doi.org/10.3390/ijms21207623.

Su N, Yang J, Xie Y, Du X, Chen H, Zhou H, et al. Bone function, dysfunction and its role in diseases including critical illness. Int J Biol Sci. 2019;15(4):776–87. https://doi.org/10.7150/ijbs.27063.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nayak S, Greenspan SL. Osteoporosis treatment efficacy for men: a systematic review and meta-analysis. J Am Geriatr Soc. 2017;65(3):490–5. https://doi.org/10.1111/jgs.14668.

Article  PubMed  Google Scholar 

Almeida M, O'Brien CA. Basic biology of skeletal aging: role of stress response pathways. J Gerontol A Biol Sci Med Sci. 2013;68(10):1197–208. https://doi.org/10.1093/gerona/glt079.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wallace DC. A mitochondrial bioenergetic etiology of disease. J Clin Invest. 2013;123(4):1405–12. https://doi.org/10.1172/jci61398.

Article  CAS  PubMed  PubMed Central  Google Scholar 

•• Brown JA, Sammy MJ, Ballinger SW. An evolutionary, or “mitocentric” perspective on cellular function and disease. Redox Biol. 2020;36:101568. https://doi.org/10.1016/j.redox.2020.101568. Recent review of the role of mitochondrial genetics and function in aging of various non-skeletal tissues.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McKinney EA, Oliveira MT. Replicating animal mitochondrial DNA. Genet Mol Biol. 2013;36(3):308–15. https://doi.org/10.1590/s1415-47572013000300002.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Clay Montier LL, Deng JJ, Bai Y. Number matters: control of mammalian mitochondrial DNA copy number. J Genet Genomics. 2009;36(3):125–31. https://doi.org/10.1016/s1673-8527(08)60099-5.

Article  PubMed  PubMed Central  Google Scholar 

Atilano SR, Malik D, Chwa M, Cáceres-Del-Carpio J, Nesburn AB, Boyer DS, et al. Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes. Hum Mol Genet. 2015;24(16):4491–503. https://doi.org/10.1093/hmg/ddv173.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kopinski PK, Janssen KA, Schaefer PM, Trefely S, Perry CE, Potluri P, et al. Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy. Proc Natl Acad Sci U S A. 2019;116(32):16028–35. https://doi.org/10.1073/pnas.1906896116.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wallace DC. Mitochondrial genetic medicine. Nat Genet. 2018;50(12):1642–9. https://doi.org/10.1038/s41588-018-0264-z.

Article  CAS  PubMed  Google Scholar 

Balloux F, Handley LJ, Jombart T, Liu H, Manica A. Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation. Proc Biol Sci. 2009;276(1672):3447–55. https://doi.org/10.1098/rspb.2009.0752.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kazuno AA, Munakata K, Nagai T, Shimozono S, Tanaka M, Yoneda M, et al. Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet. 2006;2(8):e128. https://doi.org/10.1371/journal.pgen.0020128.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wallace DC. Mitochondrial DNA variation in human radiation and disease. Cell. 2015;163(1):33–8. https://doi.org/10.1016/j.cell.2015.08.067.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Leonard WR, Sorensen MV, Galloway VA, Spencer GJ, Mosher MJ, Osipova L, et al. Climatic influences on basal metabolic rates among circumpolar populations. Am J Hum Biol. 2002;14(5):609–20. https://doi.org/10.1002/ajhb.10072.

Article  PubMed  Google Scholar 

Snodgrass JJ, Leonard WR, Sorensen MV, Tarskaia LA, Mosher MJ. The influence of basal metabolic rate on blood pressure among indigenous Siberians. Am J Phys Anthropol. 2008;137(2):145–55. https://doi.org/10.1002/ajpa.20851.

Article  PubMed  Google Scholar 

Kenney MC, Chwa M, Atilano SR, Falatoonzadeh P, Ramirez C, Malik D, et al. Molecular and bioenergetic differences between cells with African versus European inherited mitochondrial DNA haplogroups: implications for population susceptibility to diseases. Biochimica et Biophysica Acta. 2014;1842(2):208–19. https://doi.org/10.1016/j.bbadis.2013.10.016.

Article  CAS  PubMed  Google Scholar 

Barrett-Connor E, Siris ES, Wehren LE, Miller PD, Abbott TA, Berger ML, et al. Osteoporosis and fracture risk in women of different ethnic groups. J Bone Miner Res. 2005;20(2):185–94. https://doi.org/10.1359/jbmr.041007.

Article  PubMed  Google Scholar 

National Diabetes Statistics Report. https://www.cdc.gov/diabetes/data/statistics-report/index.html (2022). Accessed April 25, 2023 2023.

Roshal D, Glosser D, Zangaladze A. Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. Epilepsy Behav. 2011;21(2):206–10. https://doi.org/10.1016/j.yebeh.2011.03.003.

Article  PubMed  Google Scholar 

Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005;280(36):31341–6. https://doi.org/10.1074/jbc.M506762200.

Article  CAS  PubMed  Google Scholar 

De Block CE, De Leeuw IH, Maassen JA, Ballaux D, Martin JJ. A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea. Exp Clin Endocrinol Diabetes. 2004;112(2):80–3. https://doi.org/10.1055/s-2004-815754.

Article  CAS  PubMed  Google Scholar 

Flanagan D, CRNA A, Hicks L. Anesthetic management of a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like symptoms (MELAS): a case study. Anesth J. 2016;4(1)

Maslow A, Lisbon A. Anesthetic considerations in patients with mitochondrial dysfunction. Anesth Analg. 1993;76(4):884–6. https://doi.org/10.1213/00000539-199304000-00035.

Article  CAS  PubMed  Google Scholar 

Blair MT, Heard G. Neuraxial anaesthesia in MELAS syndrome. Anaesth Intensive Care. 2011;39(6):1152–3.

CAS  PubMed  Google Scholar 

Du Y, Jiang B, Li K, Chen Y, He J. Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia. Eye Sci. 2013;28(1):48–50.

PubMed  Google Scholar 

Hayashi S, Okamoto K. Leber’s hereditary optic neuropathy after head trauma: a case report. Rinsho Shinkeigaku. 2011;51(10):781–3. https://doi.org/10.5692/clinicalneurol.51.781.

Article  PubMed  Google Scholar 

Manickam AH, Michael MJ, Ramasamy S. Mitochondrial genetics and therapeutic overview of Leber’s hereditary optic neuropathy. Indian J Ophthalmol. 2017;65(11):1087–92. https://doi.org/10.4103/ijo.IJO_358_17.

Article  PubMed  PubMed Central  Google Scholar 

Diab M. Self-inflicted orodental injury in a child with Leigh disease. Int J Paediatr Dent. 2004;14(1):73–7. https://doi.org/10.1111/j.1365-263x.2004.00472.x.

Article  CAS  PubMed  Google Scholar 

Schubert Baldo M, Vilarinho L. Molecular basis of Leigh syndrome: a current look. Orphanet J. Rare Dis. 2020;15(1):31. https://doi.org/10.1186/s13023-020-1297-9.

Article  PubMed  PubMed Central  Google Scholar 

Monroy N, Macías Kauffer LR, Mutchinick OM. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene. Eur J Med Genet. 2008;51(3):245–50. https://doi.org/10.1016/j.ejmg.2007.12.007.

Article  PubMed  Google Scholar 

Fetterman JL, Zelickson BR, Johnson LW, Moellering DR, Westbrook DG, Pompilius M, et al. Mitochondrial genetic background modulates bioenergetics and susceptibility to acute cardiac volume overload. Biochem J. 2013;455(2):157–67. https://doi.org/10.1042/bj20130029.

Article  CAS  PubMed  Google Scholar 

Guntur AR, Le PT, Farber CR, Rosen CJ. Bioenergetics during calvarial osteoblast differentiation reflect strain differences in bone mass. Endocrinology. 2014;155(5):1589–95. https://doi.org/10.1210/en.2013-1974.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AV, Sánchez-Cabo F, Torroja C, Acín-Pérez R, et al. Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature. 2016;535(7613):561–5. https://doi.org/10.1038/nature18618.

Article  CAS  PubMed  Google Scholar