POLYMORPHISM IN GENES INVOLVED IN LIPID METABOLISM IN MODY PATIENTS

We have analyzed the lipid profile and polymorphism in the genes involved in lipid metabolism in patients with maturity onset diabetes of the young (MODY) in West Siberia, Russia. MODY is a heterogeneous group of disorders caused by mutations in different autosomal dominant genes with high penetrati...

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Bibliographic Details
Published inAteroskleroz Vol. 16; no. 4; pp. 5 - 16
Main Authors M. I. Voevoda, E. V. Shakhtshneider, A. K. Ovsyannikova, O. D. Rymar, D. E. Ivanoshchuk, A. M. Kurilshikov, Yu. I. Ragino
Format Journal Article
LanguageRussian
Published Siberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and Genetics 01.12.2016
Subjects
genes
hyperlipidemia
maturity onset diabetes of the young
polymorphism
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Summary:We have analyzed the lipid profile and polymorphism in the genes involved in lipid metabolism in patients with maturity onset diabetes of the young (MODY) in West Siberia, Russia. MODY is a heterogeneous group of disorders caused by mutations in different autosomal dominant genes with high penetration. MODY is characterized by a slow onset of symptoms, the absence of obesity, no ketosis, and no evidence of beta cell autoimmunity. Materials and methods: In the Clinical-Diagnostic Department of the Institute of Internal and Preventive Medicine, the eligible patients underwent a clinical examination, biochemical blood analysis, quantification of HbA1c, C-peptide, thyroid status, microalbuminuria testing, ultrasonography of the abdomen and kidneys, and blood glucose monitoring (MiniMed Paradigm, MMT-754). MODY2 diabetes was confirmed in 5 patients; MODY3, in 2 patients; MODY6, in 1 patient; MODY8, in 2 patients; MODY12, in 1 patient by sequencing. The plasma lipid levels were determined by standard enzymatic assays. The lipid metabolism genes ( APOA1, APOA2, APOA4, APOA5, APOB, APOC3, APOD, LDLR, LDLRAP1, LPL, PCSK9, SCARB1 and SREBF2 ) were analyzed. Results: Hyperlipidemia was detected in patients with MODY (MODY1, MODY2, MODY3 subtypes). We found the Pro434Gln polymorphism the SREBF2 gene exon 7 and the Gly2Ser polymorphism in the SCARB1 gene exon 1. We detected the Ser474Ter nonsense-mutation the LPL gene exon 9 in 2 patients. Conclusion: Polymorphism in the genes involved in lipid metabolism can cause the lipid disorder in MODY patients. Sequencing of the genes improved our understanding of the molecular basis of MODY phenotype and may help to provide the future personalized therapy.
ISSN:2078-256X