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The determination factors of left-right asymmetry disorders- a short review
Andreea Catana1, Adina Patricia Apostu1
1Genetics Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Insights
Laterality defects, like situs inversus and heterotaxy, are rare congenital disorders affecting left-right asymmetry. Understanding their genetic and environmental causes, including ciliopathies, is crucial for developing effective therapies.
Area of Science:
- Developmental Biology
- Human Genetics
- Medical Science
Background:
- Laterality defects, including situs inversus and heterotaxy, are rare human disorders affecting left-right asymmetry, with an incidence of 1:8000 to 1:10 000.
- These conditions are linked to a significant proportion of congenital heart defects and cardiac problems.
- Evidence suggests a multifactorial etiology involving genetic and environmental factors, with a notable role for ciliopathies.
Purpose of the Study:
- To explore the genetic and environmental factors contributing to human laterality defects.
- To investigate the role of ciliopathies in the development of left-right asymmetry abnormalities.
- To identify candidate genes involved in human left-right patterning.
Main Methods:
- Review of existing literature on laterality defects in humans and model organisms.
- Analysis of genetic and environmental influences on situs inversus and heterotaxy.
- Examination of the link between ciliopathies and developmental abnormalities.
Main Results:
- Over 100 genes are implicated in left-right patterning in model organisms, but few are confirmed human candidates.
- Laterality defects exhibit genetic heterogeneity and diverse clinical manifestations.
- Ciliopathies are increasingly recognized as a factor in these developmental abnormalities.
Conclusions:
- Further research into the mechanisms of left-right development is essential for understanding clinical complexity.
- Identifying key genes and pathways will aid in diagnosing and potentially treating laterality disorders.
- A comprehensive understanding of etiology may pave the way for novel therapeutic strategies.
Abstract:
Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities. Over 100 genes have been reported to be involved in left-right patterning in model organisms, but only a few are likely to candidate for left-right asymmetry defects in humans. Left-right asymmetry disorders are genetically heterogeneous and have variable manifestations (from asymptomatic to serious clinical problems). The discovery of the right mechanism of left-right development will help explain the clinical complexity and may contribute to a therapy of these disorders.
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