Effect of Angiotensin-I Converting Enzyme Gene Insertion/Deletion Polymorphism on genome instability in children

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.

Related Concept Videos

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
27.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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%...
18.1K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.6K
Mutations01:39

Mutations

Overview
85.7K
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
15.4K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
813