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microRNAs in diseases: from candidate to modifier genes
S Bandiera1, E Hatem, S Lyonnet
1Inserm U781, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.
Clinical Genetics
|February 6, 2010
Summary
Genetic variations in microRNAs (miRNAs) and their targets offer new insights into inherited diseases. This review explores how miRNA genetic changes, including copy number variations (CNVs) and single nucleotide polymorphisms (SNPs), contribute to Mendelian diseases.
Area of Science:
- Genetics
- Molecular Biology
- Bioinformatics
Background:
- Traditionally, Mendelian disease genetics research focused on protein-coding genes.
- MicroRNAs (miRNAs) are crucial gene expression regulators with potential roles in inherited diseases.
- Genetic variations in miRNAs and their targets are increasingly recognized as disease contributors.
Purpose of the Study:
- To review the role of genetic variations in microRNAs (miRNAs) in Mendelian and complex inherited diseases.
- To explore miRNAs as candidate, regulatory, or modifier genes in disease etiology.
- To provide an overview of computational tools for miRNA identification and target characterization.
Main Methods:
- Literature review focusing on genetic variations (CNVs, SNPs) in miRNA genes and their targets.
- Analysis of miRNA roles as candidate, regulator, or modifier genes.
- Overview of computational tools for miRNA analysis.
Main Results:
- Genetic variations in miRNA genes and their targets are implicated in various inherited diseases.
- miRNAs can act as candidate genes, regulators of disease-associated genes, or modifiers of disease traits.
- Computational tools are vital for identifying disease-relevant miRNAs and their targets.
Conclusions:
- Genetic variations affecting microRNAs (miRNAs) are significant factors in Mendelian and complex diseases.
- Understanding miRNA genetic variations provides new avenues for disease diagnosis and therapeutic strategies.
- Computational approaches are essential for advancing research in miRNA genetics and disease.
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