Table 2.
Genotypes of RC-deficient patients for which pharmacological compounds have been tested.
| Patients | Mutated Gene | Amino Acid Change | Amino Acid Change | Effects | References |
|---|---|---|---|---|---|
| p.Arg59X | p.Thr423Met | + | [112,113,114] | ||
| p.Tyr204Cys | p.Cys206Gly | + | [105,115,116] | ||
| p.Glu214Lys | ex 8 del | + | [116] | ||
| NDUFV1 | p.Ala432Pro | p.Gly388X | + | [116] | |
| p.Glu377Lys | p.Glu377Lys | - | [116] | ||
| p.Arg386His | p.Pro252Arg | - | [116] | ||
| p.Arg386Cys | p.Ser251fsX44 | - | [116] | ||
| p.Gln381Arg | p.Arg386His | - | [117] | ||
| p.Arg386Cys | p.Arg386Cys | + | [117] | ||
| NDUFV2 | ex 2 del | ex 2 del | + | [105,116] | |
| p.Ala183Thr | p.Tyr70fs*6 | + | [117] | ||
| p.Gly19_Val40del | p.Gly19_Val40del | + | [117] | ||
| NDUFS1 | Del222 | p.Asp252Gly | - | [105] | |
| del entire gene | p.Met707Val | - | [116] | ||
| P.Arg241Trp | p.Arg557X | - | [116] | ||
| p.Asp380Val | ? | - | [117] | ||
| p.Val228Ala | p.Asp252Gly | ± | [117] | ||
| CI-deficient | p.Gln522Lys | p.Gln522Lys | + | [118,119,120] | |
| p.Arg557X | p.Asp618Asn | - | [112,113,114] | ||
| NDUFS2 | p.Arg228Gln | p.Arg228Gln | + | [110,112,113,114] | |
| p.Met292Thr | p.Met443Lys | + | [117] | ||
| p.Met292Thr | p.Arg118Gln | - | [117] | ||
| p.Ser413Pro | p.Ser413Pro | - | [112,117] | ||
| NDUFS3 | p.Thr145Ile | p.Arg199Trp | + | [105,116] | |
| NDUFS4 | ex 3-4 del | ex 3-4 del | - | [105] | |
| p.Trp97X | p.Trp97X | + | [112,117,119] | ||
| p.Arg106X | p.Arg106X | + | [112,113] | ||
| NDUFS6 | ex 3 and 4 del | ex 3 and 4 del | - | [116] | |
| p.Leu23Trpfs*35 | p.Leu23Trpfs*35 | ± | [117] | ||
| NDUFS7 | Ala6_Arg213del | Ala6_Arg213del | - | [117] | |
| p.Val122Met | p.Val122Met | + | [112,113,114] | ||
| p.Arg145His | p.Arg145His | + | [117] | ||
| NDUFS8 | p.Arg54Trp | p.Gly20Arg | - | [121] | |
| p.Arg94Cys | p.Arg94Cys | ± | [112,113,114] | ||
| C8orf38 | p.Gln99Arg | p.Gln99Arg | - | [116] | |
| C20orfF7 | p.Gly250Val | p.Gly250Val | ± | [110] | |
| NDUFAF4 | p.Thr194Cys | p.Thr194Cys | ± | [110] | |
| FOXRED1 | p.Arg352Trp | p.Arg352Trp | ± | [110] | |
| NDUFA12L | p.Met1Leu | p.Met1Leu | ± | [110] | |
| ACAD9 | p.Arg518His | p.Arg518His | + | [115] | |
| CII-deficient | NFU1 | p.Gly208Cys | p.Gly208Cys | - | [122] |
| FP | p.Gly555Glu | p.Gly555Glu | - | [122] | |
| CIII-deficient | BCS1 | p.Pro99Leu | p.Pro99Leu | + | [105] |
| COX10 | p.Asn204Lys | p.Asn204Lys | + | [105,116] | |
| SURF1 | p.Leu105X | p.Leu105X | - | [116,122] | |
| p.Gly180Glu | ? | - | [116] | ||
| CIV-deficient | p.Pro183fsX189 | p.Pro183fsX189 | - | [105] | |
| p.Ser282Cysfs | p.Ser282Cysfs | - | [122] | ||
| LRPPRC | P.Ala354Val | P.Ala354Val | - | [123] | |
| COX6B1 | p.Arg20Cys | p.Arg20Cys | ± | [124,125,126] | |
| COX4I1 | p.Lys101Asn | p.Lys101Asn | + | [125] | |
| SCO2 | p.Gln53X | p.Glu140Lys | + | [127] | |
| EFT | p.Arg333trp | p.Arg333trp | ± | [111,126] | |
| Mutiple RC defects | GFM1 | p.Leu398Pro | p.Leu398Pro | ± | [111] |
| MRPSS22 | p.Arg170His | p.Arg170His | ± | [111,126] | |
| TRMU | p.Tyr77His | p.Tyr77His | ± | [111] |
+: positive effects; -: no or negative effects; ±: mixed effects.