engleski

Proteomic analysis of plasma from infants with S-adenosylhomocysteine hydrolase deficiency

Human S-adenosylhomocysteine hydrolase (SAHH) deficiency is a rare inherited disorder of obscure pathogenesis characterized primarily by delayed psychomotor development, marked hypotonia and abnormally slow myelination. Major biochemical hallmarks of the disease include low concentrations of plasma phosphatidylcholine and free choline, significantly increased creatine kinase and aminotransferases, as well as specific amino acid aberrations, e.g. dramatically elevated plasma S-adenosylhomocysteine, S-adenosylmethionine and methionine levels. In an attempt to contribute to better understanding of the molecular processes underlying this disease, we adopted a proteomic approach to analyze plasma samples derived from 3 Croatian infants aged 5 and 2 years and 3 months diagnosed with SAHH deficiency versus their age-matched controls. For that purpose, plasma proteins depleted of albumin and IgG were resolved by two-dimensional gel electrophoresis, and differentially expressed protein spots were identified by the means of MALDI-TOF mass spectrometry. Obtained results pointed to up- and down-regulation of 8 and 5 proteins, respectively in SAHH deficiency, which are engaged in diverse biological processes including lipid transport and metabolism, signal transduction, immune response, protein ubiquitination, vitamin transport and cell growth and division.

S-adenosylhomocysteine hydrolase (SAHH); methylation; Proteomic study

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