期刊
BIOMEDICINES
卷 10, 期 12, 页码 -出版社
MDPI
DOI: 10.3390/biomedicines10123219
关键词
Down syndrome; obesity; metabolomics; lipidomics; cardiovascular disease
资金
- Wroclaw Medical University [SUBK.D130.22.055]
People with Down syndrome are at a higher risk of developing obesity, oxidative stress disorders, metabolic disorders, and lipid and carbohydrate profile disorders compared to the general population. The presence of additional gene copies on chromosome 21 increases the risk of cardiovascular disease. Metabolic disorders and intensified oxidative stress increase the likelihood of cardiovascular disease in individuals with Down syndrome.
People with Down syndrome (PWDS) are more at risk for developing obesity, oxidative stress disorders, metabolic disorders, and lipid and carbohydrate profile disorders than the general population. The presence of an additional copy of genes on chromosome 21 (i.e., the superoxide dismutase 1 gene (SOD1) and gene coding for the cystathionine beta-synthase (CBS) enzyme) raises the risk for cardiovascular disease (CVD). As a result of disorders in metabolic processes and biochemical pathways, theoretically protective factors (low homocysteine level, high SOD1 level) do not fulfil their original functions. Overexpression of the CBS gene leads to the accumulation of homocysteine-a CVD risk factor. An excessive amount of protective SOD1, in the case of a lack of compensatory increase in the activity of catalase and peroxidase, leads to intensifying free radical processes. The occurrence of metabolic disorders and the amplified effect of oxidative stress carries higher risk of exposure of people with DS to CVD. At present, classic predispositions are known, but it is necessary to identify early risk factors in order to be able to employ CVD and obesity prophylaxis. Detailed determination of the metabolic and lipid profile may provide insight into the molecular mechanisms underlying CVD.
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