Doenças mitocondriais

Genes nucleares associados a mitocondriopatias

Lista de Genes
AARS2, ABAT, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH4A1, ALDH6A1, AMACR, AMT, ANO10, APTX, ATAD3A, ATL1, ATP5F1A, ATP5F1D, ATP5F1E, ATPAF2, AUH
BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD
C1QBP, CA5A, CARS2, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CRAT, CYB5R3, CYC1, CYCS, CYP27A1
D2HGDH, DARS1, DARS2, DBT, DDHD1, DECR1, DGUOK, DHODH, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2
EARS2, ECHS1, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1
FARS2, FASTKD2, FBP1, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, FXN
GAMT, GARS1, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GTPBP3
HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2
IARS2, IBA57, IDH1, IDH2, IDH3B, ISCA1, ISCA2, ISCU, IVD
KARS1, KIF1B, KIF5A
L2HGDH, LARS2, LIAS, LIG3, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7
MAOA, MARS2, MCCC1, MCCC2, MCEE, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MMUT, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MSTO1, MTFMT, MTO1, MTPAP, MTRFR
NADK2, NAGS, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NSUN3, NUBPL
OAT, OGDH, OPA1, OPA3, OTC, OXCT1
PANK2, PARK7, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PINK1, PMPCA, PMPCB, PNKD, PNPLA2, PNPLA8, PNPT1, POLG, POLG2, PPA2, PPOX, PRKN, PUS1
QRSL1
RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1
SACS, SAMHD1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC33A1, SLC6A8, SPART, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1
TACO1, TAFAZZIN, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP
UNG, UQCC2, UQCRB, UQCRC2, UQCRQ
VARS2
WARS2, WFS1, WWOX
XPNPEP3
YARS2, YWHAE
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída