Table 1.

Diseases caused by DNA mutation and mutation sites or genes.

Mutation Type	Related Diseases	Mutation Site or Gene
mtDNA mutation
Point mutation	MELAS syndrome, MERRF LHON Leigh’s syndrome	m.3243A>G m.8344A>G MT-TI, MT-TL1, MTTK, MT-TS1, and MT-TS2 m.11778G>A, m.3460G>A, and m.14484T>C MTFMT, MTTW, MTTV MTTL1, and MTTK
Large deletion	KSS, Pearson, CPEO	mtDNA deletion mtDNA deletion POLG mutation and mtDNA deletion
nDNA mutation
Respiratory chain subunits	Complex I deficiency Complex II deficiency Complex III deficiency Complex IV deficiency Complex V deficiency	TMEM126B mutation NDUF1V, NDUFV2, NDUFS1, NDUFS2, NDUFA12, NDUFAF2, NDUFAF5, NDUFAF6, FOXRED1, and SDHA SDHAF mutation [82] TTC19 and BCS1L UQCRFS1 mutation [83] SURF1, SCO1, and SCO2 FASTKD2 mutation [84] ATPAF2, TMEM70, and ATP5E
mtDNA replication or transcription	MNGIE MEMSA	TP gene mutation POLG mutation
Protein function	HSP Nerve system	SPG11 mutation SLC25A1 mutation [85]