Predisposition to atherosclerosis in children and adults with trisomy 21: 
biochemical and metabolomic studies

Marta Hetman; Karolina Mielko; Sylwia Placzkowska; Aleksandra Bodetko; Piotr Młynarz; Ewa Barg

doi:10.5114/pedm.2023.131162

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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3/2023
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abstract:

Original paper

Predisposition to atherosclerosis in children and adults with trisomy 21: biochemical and metabolomic studies

Marta Hetman

¹

,

Karolina Mielko

²

,

Sylwia Placzkowska

³

,

Aleksandra Bodetko

¹

,

Piotr Młynarz

²

,

Ewa Barg

¹

Department of Basic Medical Sciences, Wroclaw Medical University, Poland
Department of Biochemistry, Molecular Biology and Biotechnology, Faculty of Chemistry, Wroclaw University of Science and Technology, Poland
Teaching and Research Diagnostic Laboratory, Department of Laboratory Diagnostics, Wroclaw Medical University, Poland

Pediatr Endocrinol Diabetes Metab 2023; 29 (3): 143-155

DOI: https://doi.org/10.5114/pedm.2023.131162

Online publish date: 2023/10/23

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Introduction
Atherosclerosis, a precursor to cardiovascular disease (CVD), is deeply intertwined with lipid metabolism. The metabolic process in the Down syndrome (DS) population remain less explored. Aim of the study: This study examines the lipid profiles of DS in comparison to their siblings (CG), aiming to uncover potential atherosclerotic and CVD risks.

Material and methods
The study included 42 people with DS (mean age 14.17 years) and the CG – 20 individuals (mean age 15.92 years). Anthropometric measurements: BMI, BMI SDS, and TMI were calculated. Lipid profile (LP) and metabolomics were determined.

Results
LP: DS display significantly reduced HDL (DS vs. CG: 47±10 vs. 59 ±12 mg/dl; p = 0.0001) and elevated LDL (104 ±25 vs. 90 ±22 mg/dl; p = 0.0331). Triglycerides, APO A1, and APO B/APO A1 ratio corroborate with the elevated risk of CVD in DS. Despite no marked differences in: TCH and APO B, the DS group demonstrated a concerning BMI trend. Of 31 identified metabolites, 12 showed statistical significance (acetate, choline, creatinine, formate, glutamine, histidine, lysine, proline, pyroglutamate, threonine, tyrosine, and xanthine). However, only 8 metabolites passed the FDR validation (acetate, creatinine, formate, glutamine, lysine, proline, pyroglutamate, xanthine).

Conclusions
Down syndrome individuals show distinct cardiovascular risks, with decreased HDL and increased LDL levels. Combined with metabolomic disparities and higher BMI and TMI, this suggests an increased atherosclerosis risk compared to controls.

keywords:

Predisposition to atherosclerosis in children and adults with trisomy 21: biochemical and metabolomic studies

Marta Hetman 1 , Karolina Mielko 2 , Sylwia Placzkowska 3 , Aleksandra Bodetko 1 , Piotr Młynarz 2 , Ewa Barg 1

atherosclerosis, cardiovascular disease, lipid profile, Down syndrome, metabolomics

Marta Hetman

¹

,

Karolina Mielko

²

,

Sylwia Placzkowska

³

,

Aleksandra Bodetko

¹

,

Piotr Młynarz

²

,

Ewa Barg

¹