Doenças mitocondriais

Genes nucleares associados a mitocondriopatias

Lista de Genes
AARS2 (HGNC:21022), ABAT (HGNC:23), ABCB7 (HGNC:48), ACAD8 (HGNC:87), ACAD9 (HGNC:21497), ACADM (HGNC:89), ACADS (HGNC:90), ACADSB (HGNC:91), ACADVL (HGNC:92), ACAT1 (HGNC:93), ACO2 (HGNC:118), AFG3L2 (HGNC:315), AGK (HGNC:21869), AIFM1 (HGNC:8768), AK2 (HGNC:362), ALAS2 (HGNC:397), ALDH4A1 (HGNC:406), ALDH6A1 (HGNC:7179), AMACR (HGNC:451), AMT (HGNC:473), ANO10 (HGNC:25519), APTX (HGNC:15984), ATAD3A (HGNC:25567), ATL1 (HGNC:11231), ATP5F1A (HGNC:823), ATP5F1D (HGNC:837), ATP5F1E (HGNC:838), ATPAF2 (HGNC:18802), AUH (HGNC:890)
BCAT2 (HGNC:977), BCKDHA (HGNC:986), BCKDHB (HGNC:987), BCS1L (HGNC:1020), BOLA3 (HGNC:24415), BTD (HGNC:1122)
C1QBP (HGNC:1243), CA5A (HGNC:1377), CARS2 (HGNC:25695), CEP89 (HGNC:25907), CHCHD10 (HGNC:15559), CISD2 (HGNC:24212), CLPB (HGNC:30664), CLPP (HGNC:2084), COA5 (HGNC:33848), COA6 (HGNC:18025), COA7 (HGNC:25716), COA8 (HGNC:20492), COASY (HGNC:29932), COQ2 (HGNC:25223), COQ4 (HGNC:19693), COQ6 (HGNC:20233), COQ7 (HGNC:2244), COQ8A (HGNC:16812), COQ8B (HGNC:19041), COQ9 (HGNC:25302), COX10 (HGNC:2260), COX14 (HGNC:28216), COX15 (HGNC:2263), COX20 (HGNC:26970), COX4I2 (HGNC:16232), COX6A1 (HGNC:2277), COX6B1 (HGNC:2280), COX7B (HGNC:2291), CPS1 (HGNC:2323), CPT1A (HGNC:2328), CPT2 (HGNC:2330), CRAT (HGNC:2342), CYB5R3 (HGNC:2873), CYC1 (HGNC:2579), CYCS (HGNC:19986), CYP27A1 (HGNC:2605)
D2HGDH (HGNC:28358), DARS1 (HGNC:2678), DARS2 (HGNC:25538), DBT (HGNC:2698), DDHD1 (HGNC:19714), DECR1 (HGNC:2753), DGUOK (HGNC:2858), DHODH (HGNC:2867), DIABLO (HGNC:21528), DLAT (HGNC:2896), DLD (HGNC:2898), DMGDH (HGNC:24475), DNA2 (HGNC:2939), DNAJC19 (HGNC:30528), DNM1L (HGNC:2973), DNM2 (HGNC:2974)
EARS2 (HGNC:29419), ECHS1 (HGNC:3151), ELAC2 (HGNC:14198), ERCC6 (HGNC:3438), ETFA (HGNC:3481), ETFB (HGNC:3482), ETFDH (HGNC:3483), ETHE1 (HGNC:23287)
FARS2 (HGNC:21062), FASTKD2 (HGNC:29160), FBP1 (HGNC:3606), FBXL4 (HGNC:13601), FDX2 (HGNC:30546), FDXR (HGNC:3642), FH (HGNC:3700), FLAD1 (HGNC:24671), FOXRED1 (HGNC:26927), FXN (HGNC:3951)
GAMT (HGNC:4136), GARS1 (HGNC:4162), GATM (HGNC:4175), GCDH (HGNC:4189), GCK (HGNC:4195), GCSH (HGNC:4208), GDAP1 (HGNC:15968), GFER (HGNC:4236), GFM1 (HGNC:13780), GFM2 (HGNC:29682), GK (HGNC:4289), GLDC (HGNC:4313), GLRX5 (HGNC:20134), GLUD1 (HGNC:4335), GTPBP3 (HGNC:14880)
HADH (HGNC:4799), HADHA (HGNC:4801), HADHB (HGNC:4803), HARS2 (HGNC:4817), HCCS (HGNC:4837), HIBCH (HGNC:4908), HK1 (HGNC:4922), HLCS (HGNC:4976), HMGCL (HGNC:5005), HMGCS2 (HGNC:5008), HOGA1 (HGNC:25155), HSD17B10 (HGNC:4800), HSPD1 (HGNC:5261), HTRA2 (HGNC:14348)
IARS2 (HGNC:29685), IBA57 (HGNC:27302), IDH1 (HGNC:5382), IDH2 (HGNC:5383), IDH3B (HGNC:5385), ISCA1 (HGNC:28660), ISCA2 (HGNC:19857), ISCU (HGNC:29882), IVD (HGNC:6186)
KARS1 (HGNC:6215), KIF1B (HGNC:16636), KIF5A (HGNC:6323)
L2HGDH (HGNC:20499), LARS2 (HGNC:17095), LIAS (HGNC:16429), LIG3 (HGNC:6600), LIPT1 (HGNC:29569), LIPT2 (HGNC:37216), LONP1 (HGNC:9479), LRPPRC (HGNC:15714), LYRM4 (HGNC:21365), LYRM7 (HGNC:28072)
MAOA (HGNC:6833), MARS2 (HGNC:25133), MCCC1 (HGNC:6936), MCCC2 (HGNC:6937), MCEE (HGNC:16732), MDH2 (HGNC:6971), MECR (HGNC:19691), MFF (HGNC:24858), MFN2 (HGNC:16877), MGME1 (HGNC:16205), MICOS13 (HGNC:33702), MICU1 (HGNC:1530), MIPEP (HGNC:7104), MLYCD (HGNC:7150), MMAA (HGNC:18871), MMAB (HGNC:19331), MMADHC (HGNC:25221), MMUT (HGNC:7526), MPC1 (HGNC:21606), MPV17 (HGNC:7224), MRPL3 (HGNC:10379), MRPL44 (HGNC:16650), MRPS16 (HGNC:14048), MRPS2 (HGNC:14495), MRPS22 (HGNC:14508), MRPS34 (HGNC:16618), MSTO1 (HGNC:29678), MTFMT (HGNC:29666), MTO1 (HGNC:19261), MTPAP (HGNC:25532), MTRFR (HGNC:26784)
NADK2 (HGNC:26404), NAGS (HGNC:17996), NARS2 (HGNC:26274), NAXE (HGNC:18453), NDUFA1 (HGNC:7683), NDUFA10 (HGNC:7684), NDUFA11 (HGNC:20371), NDUFA12 (HGNC:23987), NDUFA2 (HGNC:7685), NDUFA4 (HGNC:7687), NDUFA6 (HGNC:7690), NDUFA9 (HGNC:7693), NDUFAF1 (HGNC:18828), NDUFAF2 (HGNC:28086), NDUFAF3 (HGNC:29918), NDUFAF4 (HGNC:21034), NDUFAF5 (HGNC:15899), NDUFAF6 (HGNC:28625), NDUFAF8 (HGNC:33551), NDUFB11 (HGNC:20372), NDUFB3 (HGNC:7698), NDUFB8 (HGNC:7703), NDUFB9 (HGNC:7704), NDUFS1 (HGNC:7707), NDUFS2 (HGNC:7708), NDUFS3 (HGNC:7710), NDUFS4 (HGNC:7711), NDUFS6 (HGNC:7713), NDUFS7 (HGNC:7714), NDUFS8 (HGNC:7715), NDUFV1 (HGNC:7716), NDUFV2 (HGNC:7717), NFU1 (HGNC:16287), NSUN3 (HGNC:26208), NUBPL (HGNC:20278)
OAT (HGNC:8091), OGDH (HGNC:8124), OPA1 (HGNC:8140), OPA3 (HGNC:8142), OTC (HGNC:8512), OXCT1 (HGNC:8527)
PANK2 (HGNC:15894), PARK7 (HGNC:16369), PARS2 (HGNC:30563), PC (HGNC:8636), PCCA (HGNC:8653), PCCB (HGNC:8654), PCK2 (HGNC:8725), PDHA1 (HGNC:8806), PDHB (HGNC:8808), PDHX (HGNC:21350), PDK3 (HGNC:8811), PDP1 (HGNC:9279), PDSS1 (HGNC:17759), PDSS2 (HGNC:23041), PET100 (HGNC:40038), PINK1 (HGNC:14581), PMPCA (HGNC:18667), PMPCB (HGNC:9119), PNKD (HGNC:9153), PNPLA2 (HGNC:30802), PNPLA8 (HGNC:28900), PNPT1 (HGNC:23166), POLG (HGNC:9179), POLG2 (HGNC:9180), PPA2 (HGNC:28883), PPOX (HGNC:9280), PRKN (HGNC:8607), PUS1 (HGNC:15508)
QRSL1 (HGNC:21020)
RARS2 (HGNC:21406), REEP1 (HGNC:25786), RMND1 (HGNC:21176), RNASEH1 (HGNC:18466), RRM2B (HGNC:17296), RTN4IP1 (HGNC:18647)
SACS (HGNC:10519), SAMHD1 (HGNC:15925), SARS2 (HGNC:17697), SCO1 (HGNC:10603), SCO2 (HGNC:10604), SDHA (HGNC:10680), SDHAF1 (HGNC:33867), SDHAF2 (HGNC:26034), SDHB (HGNC:10681), SDHC (HGNC:10682), SDHD (HGNC:10683), SERAC1 (HGNC:21061), SFXN4 (HGNC:16088), SLC19A2 (HGNC:10938), SLC19A3 (HGNC:16266), SLC22A5 (HGNC:10969), SLC25A1 (HGNC:10979), SLC25A12 (HGNC:10982), SLC25A13 (HGNC:10983), SLC25A15 (HGNC:10985), SLC25A19 (HGNC:14409), SLC25A20 (HGNC:1421), SLC25A22 (HGNC:19954), SLC25A26 (HGNC:20661), SLC25A3 (HGNC:10989), SLC25A32 (HGNC:29683), SLC25A38 (HGNC:26054), SLC25A4 (HGNC:10990), SLC25A42 (HGNC:28380), SLC25A46 (HGNC:25198), SLC33A1 (HGNC:95), SLC6A8 (HGNC:11055), SPART (HGNC:18514), SPAST (HGNC:11233), SPG7 (HGNC:11237), STAR (HGNC:11359), SUCLA2 (HGNC:11448), SUCLG1 (HGNC:11449), SURF1 (HGNC:11474)
TACO1 (HGNC:24316), TAFAZZIN (HGNC:11577), TIMM50 (HGNC:23656), TIMM8A (HGNC:11817), TK2 (HGNC:11831), TMEM126A (HGNC:25382), TMEM126B (HGNC:30883), TMEM70 (HGNC:26050), TOP3A (HGNC:11992), TPK1 (HGNC:17358), TRIT1 (HGNC:20286), TRMT10C (HGNC:26022), TRMT5 (HGNC:23141), TRMU (HGNC:25481), TRNT1 (HGNC:17341), TSFM (HGNC:12367), TTC19 (HGNC:26006), TUFM (HGNC:12420), TWNK (HGNC:1160), TYMP (HGNC:3148)
UNG (HGNC:12572), UQCC2 (HGNC:21237), UQCRB (HGNC:12582), UQCRC2 (HGNC:12586), UQCRQ (HGNC:29594)
VARS2 (HGNC:21642)
WARS2 (HGNC:12730), WFS1 (HGNC:12762), WWOX (HGNC:12799)
XPNPEP3 (HGNC:28052)
YARS2 (HGNC:24249), YWHAE (HGNC:12851)
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída