Mitochondrial respiratory chain diseases
| (A) Primary mitochondrial DNA mutations |
|---|
| (1) Rearrangements |
| (a) Single deletions |
| CPEO (MIM 165130)5 6 |
| Kearns-Sayre syndrome (MIM 165100)7 |
| Pearson syndrome8 |
| Diabetes and deafness9 |
| (b) Multiple deletions |
| Encephalomyopathy10 |
| Recurrent myoglobinuria11 |
| SANDO12 |
| (2) Point mutations |
| (a) Missense mutations (coding region) |
| LHON (MIM 535000) |
| G11778A ND513 |
| G3460A ND114 |
| T14484C ND615 |
| Optic atrophy and dystonia |
| A11696G ND416 |
| G14459A ND617 |
| T14596A ND616 |
| MELAS |
| T9957C COX III18 |
| G13515A ND519 |
| Encephalomyopathy and myopathy |
| G9952A COX III20 |
| NARP/Leigh disease/striatal necrosis |
| T3308C ND121 |
| T8851C ATPase622 |
| T8993G/C ATPase623 24 |
| T9176C ATPase625 26 |
| (b) Transfer RNA gene |
| MELAS (MIM 251910) |
| G1642A tRNAVal 27 |
| A3243G tRNALeu(UUR) 28 |
| A3252G tRNALeu(UUR) 29 |
| A3260G tRNALeu(UUR) 30 |
| T3271C tRNALeu(UUR) 31 |
| T3291C tRNALeu(UUR) 32 |
| A5814G tRNACys 33 |
| MERRF (MIM 254775) |
| A8344G tRNALys 34 |
| T8356C tRNALys 35 |
| G8363 tRNALys 36 |
| MERRF/MELAS overlap |
| T7521C tRNASer(UCN) 37 |
| T8356C tRNALys 38 |
| Diabetes and deafness |
| A3243G tRNALeu(UUR) 39 |
| T12258AtRNASer(AGY) 40 |
| Cardiomyopathy |
| A3243G tRNALeu(UUR) 41 |
| A3254G tRNALeu(UUR) 42 |
| A3260G tRNALeu(UUR) 43 |
| C3303T tRNALeu(UUR) 44 |
| A4269G tRNAIlle 45 |
| A4295G tRNAIlle 46 |
| A4300G tRNAIlle 47 |
| C4320T tRNAIlle 48 |
| G8363A tRNALys 49 |
| T9977C tRNAGly 50 |
| CPEO |
| A3243G tRNALeu(UUR) 51 |
| A3251G tRNALeu(UUR) 52 |
| C3256T tRNALeu(UUR) 53 |
| T4274C tRNAIlle 54 |
| T4285C tRNAIlle 55 |
| G4298A tRNAIlle 56 |
| A5692G tRNAAsn 57 |
| G5703A tRNAAsn 53 |
| T12311C tRNALeu(CUN) 58 |
| G12315A tRNALeu(CUN) 59 |
| Pure myopathy |
| A606G tRNAPhe 60 |
| A3243G tRNALeu(UUR) 51 |
| T3250C tRNALeu(UUR) 61 |
| A3302G tRNALeu(UUR) 62 |
| T4409C tRNAMet 63 |
| G5521A tRNATrp 64 |
| A8344G tRNALys 34 |
| A12330G tRNALeu(CUN) 65 |
| C15990T tRNAPro 66 |
| Myopathy and diabetes |
| A14709G tRNAGlu 67 |
| Encephalomyopathy |
| G1606A tRNAVal 68 |
| T10010C tRNAGlu 69 |
| G15915A tRNATrp 70 |
| Dementia and chorea |
| G5549A tRNATrp 71 |
| A3243G tRNALeu(UUR) 72 |
| G8313A tRNALys 73 |
| Leigh syndrome |
| G1644T tRNAVal 74 |
| Non-syndromic deafness |
| A7455G tRNASer(UCN) 75 |
| Acquired sideroblastic anaemia |
| G12301A tRNALeu(CUN) 76 |
| (c) Ribosomal RNA gene |
| Non-syndromic/aminoglycoside induced deafness |
| G1555A 12S rRNA77 |
| (B) Nuclear gene mutations |
| (1) Nuclear gene defects indirectly affecting mitochondrial function through mtDNA |
| Autosomal dominant CPEO with multiple mtDNA deletions (10q23.3-q24.3; 3p14.1-21.2)78 79 |
| Mitochondrial neurogastrointestinal encephalomyopathy (thymidine phosphorylase deficiency — mutations in thymidine phosphorylase gene 22q13.32-qter)80 |
| (2) Nuclear genetic disorders of the mitochondrial respiratory chain |
| Multisystem disease (complex I deficiency — mutations in AQDQ subunit on chr 5)81 |
| Leigh syndrome (complex I deficiency — mutations in NDUFS8 subunit)82 |
| Optic atrophy and ataxia (complex II deficiency — mutations in Fp subunit of SDH on chr 3)83 |
| Leigh syndrome (complex II deficiency — mutations in Fp subunit of SDH on chr 3)84 |
| Leigh syndrome (complex IV deficiency — mutations in SURF I gene 9q1)85 86 |
| Benign infantile myopathy with COX deficiency87 |
| Fatal infantile myopathy with COX deficiency88 |