15 (Wallace 2005) (Korr et al 1998) mtdna (Berdanier & Everts 2001) mtdna. mtdna mtdna mtdna mtdna mtdna mtdna mtdna.

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1 15 (Wallace 2005) DNA mtdna mtdna16,569bpdnah LmtDNA1322tRNA2rRNA 12kntp (D-1oop)(Graeber et al 1998) AmtDNA,DNA mtdna(meissner 2007) mtdna(bowmaker et al 2003) O H γ (POLG)2/3 mtdnao L mtdna B mtdnamtdna O H C mtdna (Bowmaker et al 2003) D mtdnandnamtdna ndna1020mtdna mtdna (Korr et al 1998) mtdna 25000(Berdanier & Everts 2001) mtdna mtdnamtdna mtdnamtdna mtdnamtdna mtdna mtdna

mtdnamtdna O H C mtdna (Bowmaker et al 2003) D mtdnandnamtdna ndna1020mtdna mtdna10004

2 . DNA(Bowmaker et al 2003). A, 13RNA ND, NADH; cyt b, b; COX, C; A, ATP rrna, rrna22trnas B, mtdna 2/3O L C, O H O H ; D,Bowmaker θ O H O H a acd mtdnamtdna mtdna (MELAS) MERRF(MELAS)mtDNA (Chan 2006) mtdna mtdna mtdna(chan 2006) mtdna

3 mtdnamtdna mtdnamtdna mtdna(chan 2006) 1988Wallace LebermtDNA (Brown et al 1995)mtDNA ROS mtdnagcat DNADNA DNAROS (Yakes & VanHouten 1997)mtDNA mtdna 8DNA(A3243G, T8993G/C, A8344G, A1555G, G11778A, G3460A and T14484C) 10.1%A3243G(Cao et al)a3243ga8344g A3243G A3243G trnaleuuur MELAS A8344G trnalys MERRFT8993G/C NARP 8DNA(A3243G, T8993G/C, A8344G, A1555G, G11778A, G3460A and T14484C) 10.1%A3243G(Cao et al)a3243ga8344g

4 A3243G A3243G trnaleuuur MELAS A8344G trnalys MERRFT8993G/C NARP mtdna Leber(LHON) Leber(LHON) I LHON mtdna /ND6(Qu et al) NARP neuropathy, ataxia and retinitis pigmentosanarp ATPT8993G156 (Rak et al 2007) Leigh Leigh Leigh (Finsterer 2008).SURF1 CLeigh mtdnatrna MELAS mitochondrial encephalomyopathy, lactic acidosis and strokelike episodesmelas mtdna 3243(He & Zhang) MERRF myoclonus epilepsy with ragged red fibersmerrf trna(lys) 8313GAtRNA(Lys) G8313A(Bacman et al 2003) mtdnarrna (AID)

SURF1 CLeigh mtdnatrna MELAS mitochondrial encephalomyopathy, lactic acidosis and strokelike episodesmelas mtdna 3243(He &

5 (AID)1993(Fischel-Ghodsian 1999) 12S rrna A1555G 12S rrna 68A1555G(Lu et al) mtdna Pearson Pearson KSSmtDNA 4977(Pogozelski et al 2003) Kearns-SayreKSS Kearns-SayreKSS mtdna (Lopez-Gallardo et al 2009)20 CPEO chronic progressive external ophthalmoplegiacpeo CPEO mtdna(lopez-gallardo et al 2009) mtdna10.4kbmtdna LO2rRNaND1cytb RNAmtDNA(Tuppen et al)mtdna mtdnamtdna3243a GtRNALeu ATP (Tuppen et al) Bacman SR, Atencio DP, Moraes CT Decreased mitochondrial trna(lys) steady-state levels and aminoacylation are associated with the pathogenic G8313A mitochondrial DNA mutation. Biochemical Journal 374: 131-6

4kbmtdna 4389-14812LO2rRNaND1cytb RNAmtDNA(Tuppen et al)mtdna mtdnamtdna3243a GtRNALeu ATP (Tuppen et al) Bacman SR, Atencio DP, Moraes CT. 2003.

6 Berdanier CD, Everts HB Mitochondrial DNA in aging and degenerative disease. Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis 475: Bowmaker M, Yang MY, Yasukawa T, Reyes A, Jacobs HT, et al Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. Journal of Biological Chemistry 278: Brown MD, Torroni A, Reckord CL, Wallace DC PHYLOGENETIC ANALYSIS OF LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNAS INDICATES MULTIPLE INDEPENDENT OCCURRENCES OF THE COMMON MUTATIONS. Human Mutation 6: Cao YY, Ma YN, Zhang Y, Li YJE, Fang F, et al. Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies. Mitochondrion 10: Chan DC Mitochondria: Dynamic organelles in disease, aging, and development. Cell 125: Finsterer J Leigh and Leigh-Like Syndrome in Children and Adults. Pediatric Neurology 39: Fischel-Ghodsian N Mitochondrial deafness mutations reviewed. Human Mutation 13: Graeber MB, Grasbon-Frodl E, Eitzen UV, Kosel S Neurodegeneration and aging: Role of the second genome. Journal of Neuroscience Research 52: 1-6 He ZW, Zhang CD. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes correlates with heteroplasmic mutations of mitochondrial DNA 3243 A single-case genealogy analysis. Neural Regeneration Research 5: Korr H, Kurz C, Seidler TO, Sommer D, Schmitz C Mitochondrial DNA synthesis studied autoradiographically in various cell types in vivo. Brazilian Journal of Medical and Biological Research 31: Lopez-Gallardo E, Lopez-Perez MJ, Montoya J, Ruiz-Pesini E CPEO and KSS differ in the percentage and location of the mtdna deletion. Mitochondrion 9: Lu JX, Li ZY, Zhu Y, Yang AF, Li RH, et al. Mitochondrial 12S rrna variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion 10: Meissner C Mutations of mitochondrial DNA - cause or consequence of the ageing process? Zeitschrift Fur Gerontologie Und Geriatrie 40: Pogozelski WK, Hamel CJC, Woeller CF, Jackson WE, Zullo SJ, et al Quantification of total mitochondrial DNA and the 4977-by common deletion in Pearson's syndrome lymphoblasts using a fluorogenic 5 '-nuclease (TaqMan (TM)) real-time polymerase chain reaction assay and plasmid external calibration standards. Mitochondrion 2: Qu J, Zhou XT, Zhao FX, Liu XL, Zhang ML, et al. Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation. Biochimica Et Biophysica Acta-General Subjects 1800: Rak M, Tetaud E, Duvezin-Caubet S, Ezkurdia N, Bietenhader M, et al A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene. Journal of Biological Chemistry 282: Tuppen HAL, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease. Biochimica Et Biophysica Acta-Bioenergetics 1797:

Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. Journal of Biological Chemistry 278: 50961-9 Brown MD, Torroni A, Reckord CL, Wallace DC. 1995.

7 Wallace DC A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annual Review of Genetics 39: Yakes FM, VanHouten B Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proceedings of the National Academy of Sciences of the United States of America 94: 514-9

evolutionary medicine. Annual Review of Genetics 39: 359-407 Yakes FM, VanHouten B. 1997.

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