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Page 164 Sulaiman et al. J Transl Genet Genom 2020;4:159-87 I https://doi.org/10.20517/jtgg.2020.27

MM, exercise intolerance MTCYB EXIT G15497A G-A G251S + - [99]
MM, exercise intolerance MTCYB EXIT 15498del24 24 bp 251GDPDNYTL- - + [86]
deletion- del258
MM, exercise intolerance MTCYB EXIT G15615A G-A G290D - + [100]
MM, exercise intolerance MTCYB EXIT G15723A G-A W326Ter - + [86]
Mitochondrial myopathy MTCYB MM G15762A G-A G339E - + [101]
MM, CPEO MTND4 CPEO T11232C T-C L140P - + [102]
MM, exercise intolerance MTND4 EXIT G11832A G-A W358Ter - + [86]
MM, exercise intolerance MTCO1 EXIT/myoglobinuria G5920A G-A W6Ter - + [103]
MM MTCO1 MM & rhabdomyolysis G6708A G-A G269Ter - + [104]
MM MTCO2 MM T7671A T-A M29K - + [105]
MM, exercise intolerance MTCO2 EXIT/rhabdomyolysis T7989C T-C L135P - + [106]
MM MTCO3 Myopathy and 9487del15 Del 15 bp Removed 5 aa + [107]
myoglobinuria
MM ND4 MM 3902inv7 Inv 7 bp D199G, + - [108]
bp L200K,A201V
Secondary mitochondrial diseases
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy MTCYB HCM G15243A G-A G166E - + [109]
Hypertrophic cardiomyopathy MTCYB HCM G15498A G-A G251D - + [110]
Diabetes mellitus MTND4 DM A12026G A-G I423V + - [74]
Idiopathic sideroblastic anemia MTCO1 SIDA T6721C T-C M273T - + [111]
Idiopathic sideroblastic anemia MTCO1 SIDA T6742C T-C I280T - + [111]
Deafness/sensorineural hearing loss
Deafness MTCO1 DEAF A7443G A-G Ter514G + - [112]
Deafness MTCO1 DEAF A7445C A-C Ter514S + - [112]
Deafness, sensorineural hearing loss MTCO1 SNHL/LHON G7444A G-A Ter514K + - [112]
Deafness, sensorineural hearing loss MTCO2 SNHL A8108G A-G I175V + - [113]
Deafness, sensorineural hearing loss MTND6 SNHL C14340T C-T V112M + - [113]
Alzheimer’s and Parkinson’s diseases
Alzheimer’s & Parkinson’s diseases MTND1 ADPD A3397G A-G M31V + - [114]
Alzheimer’s & Parkinson’s diseases MTND2 AD G5460A G-A A331T + + [115-117]
Alzheimer’s & Parkinson’s diseases MTND2 AD G5460T G-T A331S + + [115-117]
AD: Alzheimer’s disease; ADPD: Alzheimer’s plus Parkinson’s diseases; CPEO: chronic progressive ophthalmoplegia; DEAF: deafness,
sensorineural hearing loss; ESOC: epilepsy, strokes, optic atrophy and cognitive decline; EXIT: exercise intolerance; FBSN: familial bilateral
striatal necrosis; HCM: hypertrophic cardiomyopathy; LHON: Leber hereditary optic neuropathy; MM: mitochondrial myopathy; MERRF:
myoclonic epilepsy with ragged-red fibers disease; MELAS: mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes;
NAION: non-arteritic anterior ischemic optic neuropathy; NARP: neurogenic muscle weakness, ataxia and retinitis pigmentosa; NIDDM:
non-insulin dependent diabetes mellitus; PEM: progressive encephalopathy; PEO: progressive external ophthalmoplegia; PD: Parkinson’s
disease; SNHL: sensorineural hearing loss; SIDA: sideroblastic anemia; Ho: homoplasmic; He: heteroplasmic; Rep: reported/provisional
mutations that have been reported one or a few times in association with disease but are not confirmed as pathogenic; P.M.: (point
mutation/polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic population
variant

Table 2. Summary of known nuclear DNA mutations causing mitochondrial dysfunctions in primary and secondary mitochondrial
diseases [118]
Region Gene/Locus OMIM Function Chromosome Inheritance Clinical phenotype
Complex I ACAD9 611103 Assembly and activity 3q26 AR Hypertrophic cardiopathy encephalopathy
FOXRED1 613622 Assembly 11q24.2 AR LS
NUBPL 613621 Assembly 14q12 AR Encephalomyopathy
NDUFA1 300078 HP fraction Xq24 X-linked LS, progressive neurodegenerative disorder
NDUFA2 602137 HP fraction 5q31.2 AR LS
NDUFA9 603834 HP fraction 12p13.32 AR LS
NDUFA10 603835 HP fraction 2q37.3 AR LS
NDUFA11 612638 IP fraction 19p13.3 AR Fatal infantile lactic acidosis,
encephalocardiomyopathy
NDUFA12 609653 HP fraction 12q22 AR LS
NDUFA13 609435 HP fraction 19p13.11 AR Encephalopathy, optic atrophy
NDUFAF1(CIA30) 606934 Assembly 15q13.3 AR Cardioencephalomyopathy
NDUFAF2 (B17.2L) 609653 Assembly 5q12.1 AR Early-onset progressive encephalopathy
NDUFAF3 612911 Assembly 3p21.31 AR Neonatal encephalopathy
NDUFAF4 (HRPAP2) 611776 Assembly 6q16.1 AR Infantile encephalopathy