Effect of Angiotensin-I Converting Enzyme Gene Insertion/Deletion Polymorphism on genome instability in children living in Russian Arctic
Related Experiment Video
Updated: Oct 16, 2025

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
Published on: March 16, 2022
Dina Alexandrovna Petrashova1, S N Kolomeichuk2,3
1Kola Science Centre, Russian Academy of Sciences.
Insights
Childhood arterial hypertension risk is high in the Far North. Genetic analysis of the ACE gene
Area of Science:
- Pediatrics
- Genetics
- Environmental Health
Background:
- Arterial hypertension in children poses significant health risks, particularly in remote regions like the Far North.
- Early, accessible diagnostic methods for childhood pathologies are crucial.
- The angiotensin-converting enzyme (ACE) gene's in/del polymorphic marker, specifically the DD genotype, is linked to cardiovascular disease risk.
Purpose of the Study:
- To investigate the association between the ACE gene's in/del polymorphic marker and cellular changes in schoolchildren.
- To explore the potential of this genetic marker as an early indicator of health risks in adolescents.
Main Methods:
- Utilized buccal micronucleus cytome assay and genetic analysis.
- Examined 77 schoolchildren aged 15-17 from Apatity.
- Assessed frequency of micronuclei and karyopycnosis in relation to ACE gene variants.
Main Results:
- Children carrying the D allele of the ACE gene showed a trend towards increased micronuclei frequency.
- Homozygous I/I variant carriers exhibited significantly higher karyopycnosis rates compared to D allele carriers.
- The ACE gene's in/del polymorphic marker correlated with apoptotic cellular changes in the studied children.
Conclusions:
- The in/del polymorphic marker of the ACE gene is associated with early apoptotic changes in children's cells.
- This marker shows potential for predicting genome destabilization processes in the early stages of human development.
- Genetic screening of the ACE gene may aid in identifying children at risk for future health issues.
Abstract:
Main risks of arterial hypertension manifest in childhood. Children living in the Far North are especially susceptible to this. There is a need for an inexpensive, non-invasive and simple diagnosis of the risk of childhood pathologies. It was previously found that the genotype DD of the in/del polymorphic marker of the ACE gene is found in people at risk of developing cardiovascular pathologies. Buccal micronucleus cytome assay and genetic analysis were used in the work. In total, 77 schoolchildren from the city of Apatity, aged 15-17 years old, were examined. We have shown that carriers of the D allele have a tendency to an increase in the frequency of cells with micronuclei. In the case of homozygous I/I variant, the frequency of occurrence of cells with karyopycnosis is significantly higher than in carriers of allele D. Polymorphic marker in/del of the ACE gene is associated with apoptotic changes in the cells of the studied children. The in/del polymorphic marker of the ACE gene can be used as a prognostic marker of the processes of genome destabilization at the early stages of development of the human body.
Related Concept Videos
Incomplete Dominance
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Mutations
In-vitro Mutagenesis
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...

