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Enrico Bertini, convegno Mitocon 2013

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il protocollo diagnostico per bambini …

il protocollo diagnostico per bambini
Enrico Bertini, O.P. Bambino Gesù, Roma

Published in: Technology, Health & Medicine

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  • 1. Il protocollo diagnostico per bambini: esperienze a confrontoEnrico Bertini – O.P. Bambin Gesù Roma
  • 2. Diagnosi clinica• Importanza di stabilire una diagnosi sindromica(clinica, biochimica clinica, MRI, biopsia muscolare, biochimica tissutale)• S. di Leigh, MELAS, MERRF, KSS, Leucodistrofia, PCH, epatopatia progressiva,anemia sideroblastica, miopatia, neuro-miopatia, epilessia, etc.• Acidosi lattica nel sangue; acidi organici; acidosi lattica liquorale;acidosi lattica in MRS• Revisione critica delle acidosi lattiche neonatali• acidosi lattiche persistente nel tempo?• acidosi lattica si associa a grave scompenso cardiocircolatorio?• da cardiomiopatia? da malformazione cardiaca?• acidosi lattica si associa ad una sepsi?• acidosi lattica si associa a neutropenia, ad una aciduria organica?
  • 3. Biochimica clinica• Fumaric aciduria (Fumarase deficiency)• Other Krebs cycle Krebs intermediate metabolites (no discrimination)• 3-methylglutaconic aciduria (BARTH syndrome, OPA3-Costeff syndrome)• Mild methylmalonic aciduria (SUCLA2)• alpha 2-ketoglutaric aciduria, oxoglutarate (PDH)• Glutaric aciduria type II (glutaric acid, lactic, ethylmalonic, butyric,isobutyric, 2-methyl-butyric, and isovaleric acids) ETFA, ETFB, ETFDH
  • 4. MRI
  • 5. MRIPCL: Pt 2 SCFemaleSib/Pt1Ages 3, 5&7 yrs199419961991
  • 6. MRI
  • 7. Biopsia muscolarelTG TGTGTGSDH SDH SDH SDH
  • 8. Biopsia muscolare
  • 9. Biopsia muscolare
  • 10. Biopsia muscolareCOX COX SDH
  • 11. Biochimica TissutaleSpectrophotometric analysis of muscle (fibro) homogenate•Complex I•Complex II•Complex III•Complex II+III•Complex IV (cytochrome c oxydase)• Cytrate synthaseNative blue electrophoresis and in situ activity (muscle, fibro)•Complex I•Complex II•Complex III•Complex IV (cytochrome c oxydase)•Complex VATPsynthesis on isolated mitochondria from fibroblasts•Complex I•Complex II•Complex VHPLC: Coenzyme Q10
  • 12. Biochimica TissutaleMUSCLE BRAINC IC IVCP P CBN-PAGE+IN SITU ACTIVITY70mg of mitochondria were submitted to colorimetric enzymatic staining immediatelyafter the electrophoretic run and complex I (CI=NADH dehydrogenase) and complex IV(CIV=cytochrome c oxidase) activities were evaluated as already reported (Zerbetto,Dabbeni-Sala, 1997, Electrophoresis). C= control; P=patient
  • 13. Biochimica Tissutale0510152025303540SUCCINATE MALATECPCOMPLEX-V ACTIVITYSuccinateMalate
  • 14. Genetica MolecolareMitoChipExome sequencingSanger sequencing2 Chip• DNA mitocondriale• POLG1, Twinkle, PDH (E1alfa), DGOUK, MPVT17, TK2SUCL2, SUCLG1, RRM2B,Calvo et al. Molecular diagnosis of infantile mitochondrial disease with targetednext-generation sequencing. Sci Transl Med. 2012 Jan 25;4(118):118ra10.