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Master Thesis

Métabolomique par chromatographie en phase gazeuse couplée à la spectrométrie de masse et désordres génomiques détectés par CGH array : biomarqueurs ou mécanismes

Abstract : The aim of this pilot study is to assess the effects of genomic disorders at the metabolic level to derive metabolic markers and suggest pathological mechanisms. We analysed urinary organic acids by mass spectrometry coupled to gas chromatography in 30 patients carrying a genomic disorder. We observed in a patient carrying a 22q13.2qter deletion an increase in uracil and thymine due to the deletion of the TYMP gene found in this disorder. We found a decrease in N-acetylaspartic acid in a patient carrying a complex genomic disorder deleting one copy of the gene N8TL, explaining the biochemical phenotype. Noteworthy, TYMP and NAT8L are close to the haploinsufficient genes SHANK3 and NSD2. These metabolic signatures could thus be considered as indirect markers of SHANK3 and NSD2 deletions. These results need to be validated in a larger cohort. This study highlights the possibility of moderate variations of intermediary metabolism due to genetic causes and asks the question of their involvement in the phenotypes of patients.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01631647
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Clément Pontoizeau. Métabolomique par chromatographie en phase gazeuse couplée à la spectrométrie de masse et désordres génomiques détectés par CGH array : biomarqueurs ou mécanismes. Médecine humaine et pathologie. 2016. ⟨dumas-01631647⟩

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