ABSTRACT
Objective
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disease caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. The parents do not manifest the disease but are heterozygous carriers of a pathogenic ATM mutation that may be associated with coronary atherosclerosis and increased cholesterol levels. The objective of this study was to verify whether there is an agreement between the biomarkers of the lipid profile and the carotid intima-media thickness (IMT) of mothers and their children with A-T.
Methods
This cross-sectional study included A-T patients (n = 11), their mothers (n = 9), and controls (n = 20). Anthropometric data, lipid profile markers, and apolipoproteins (Apo) A-1 and B were collected and carotid IMT was performed.
Results
Dyslipidemia was found in 7/11 of patients with A-T and 6/9 of mothers with a strong level of agreement (po = 1.00; Kappa = 1.00;p = 0.001). Regarding the variables of the lipid profile, only NHDL-c (ICC = 0.64;p = 0.01) and the ApoB/ApoA-1 ratios (po = 0.72;Kappa = 0.14;p = 0.62) and TG/HDL-c (ICC = 0.54;p = 0.04) showed agreement between mothers and children. A significant difference (p < 0.001) of the carotid IMT was found in A-T patients when compared to their mothers.
Conclusion
The agreement for lipid metabolism biomarkers associated with cardiovascular risk between children with A-T and their mothers emphasizes the importance of continuous monitoring of both.
Author contributions
TLN Barreto: Acquisition of data; drafting of the manuscript; statistical analysis and interpretation of data of the manuscript; provided final approval of the version to be published; EL de Almeida Kotchetkoff: Acquisition of data; provided final approval of the version to be published; CSA Lago: study supervision and critical revision for important intellectual content; provided final approval of the version to be published; ROS Sarni: Concept and design development; drafting of the manuscript; study supervision and critical revision for important intellectual content; provided final approval of the version to be published.
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
Reviewer disclosures
Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.