ДНК диагностика митохондриальных болезней

Разработана новая диагностическая панель (лабораторией GeneDx), проверяющая 101 ген, содержащийся в ядре, мутации в которых приводят к патологии в функционировании митохондрий.

Список диагностируемых генов:

AARS2, ABCB7, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, C20ORF7, C8ORF38, CISD2, COA5 (C2ORF64), COQ2, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GFM2, GYS2, HARS2, HLCS, HSPD1, ISCU, LARS, LIAS, LRPPRC, MARS2, MFN2, MPC1 (BRP44L), MPV17, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, REEP1 (C2ORF23), RMND1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SLC25A3 (PHC), SLC25A4, SLC37A4, SOD1, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, WFS1, YARS2

Список диагностируемых заболеваний

1. Acyl-CoA dehydrogenase 9 (ACAD9) deficiency
2. Amyotrophic Lateral Sclerosis 1
3. Ataxia with Oculomotor Apraxia 1(AOA1)
4. Barth syndrome
5. Biotin-Responsive Basal Ganglia Disease
6. Bjornstad Syndrome
7. COQ10 Deficiency
8. Charcot-Marie-Tooth Disease, Type 2A2
9. Chronic Progressive External Ophthalmoplegia (CPEO)
10. Combined OXPHOS Deficiency
11. Complex I Deficiency
12. Complex II Deficiency (MT-C2D)
13. Complex III Deficiency
14. Complex IV(Cytochrome C Oxidase) Deficiency
15. Complex V (ATP Synthesis) Deficiency
16. Deafness-Dystonia-Optic Neuronopathy (DDON) Syndrome
17. Diabetes and Hearing Loss
18. Fructose-1,6-Bisphosphatase Deficiency
19. Glycogen Storage Disease 1a
20. Glycogen Storage Disease Ib
21. Glycogen Storage Disease Ic
22. Glycogen Storage Disease, Type 0
23. Gracile Syndrome
24. Hereditary Motor and Sensory Neuropathy VI
25. Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (HUPRA) Syndrome
26. Hypomyelinating Leukodystrophy 4
27. Jensen Syndrome
28. Lactic acidosis
29. Leigh Syndrome
30. Methylglutaconic Aciduria
31. Mitochondrial DNA Depletion/Multiple Deletion
32. Mitochondrial Encephalopathy
33. Mitochondrial Myopathy (MM)
34. Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
35. Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
36. Mitochondrial Phosphate Carrier Deficiency
37. Mitochondrial Super-Complex Deficiency
38. Mohr-Tranebjaerg Syndrome
39. Neuronopathy, Distal Hereditary Motor, Type VB
40. Optic Atrophy
41. Perrault Syndrome 2
42. Pontocerebellar Hypoplasia Type 6
43. Progressive External Ophthalmoplegia (PEO)
44. Pyruvate Carrier Deficiency
45. Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
46. Pyruvate Metabolism
47. Sideroblastic Anemia
48. Spastic Ataxia 4 (SPAX4)
49. Spastic Ataxia with Leukoencephalopathy, Autosomal Recessive (ARSAL)
50. Spastic Paraplegia 13
51. Spastic Paraplegia 31
52. Spastic Paraplegia 7
53. Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
54. Wernicke's-Like Encephalopathy
55. Wolfram Syndrome

Алгоритм диагностики митохондриальных энцефалопатий (С.Н. Иллариошкин) www.neurology.ru/professional/an_3_2007_23.pdf

Материал подготовила Марианна Иванова, февраль 2014