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Cited by 40MicroRNA in disease regulationRNA regulation and diseaseRNA Research and Splicing

Consequences of genetic variants in miRNA genes

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Machowska, Magdalena, Galka-Marciniak, Paulina, Kozlowski, Piotr·2022·Computational and Structural Biotechnology Journal
DOI 10.1016/j.csbj.2022.11.036PMC PMC9708458
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Abstract

MicroRNAs (miRNAs) are small non-coding RNAs that posttranscriptionally regulate the expression of most genes. They are involved in regulating many physiological processes, and aberrations in the levels of different miRNAs play an important role in the development of many diseases, including autoimmune diseases, neuropsychiatric diseases, and cancers. Although miRNAs are being intensively studied and levels of many miRNAs are either specifically increased or decreased in particular diseases, very little is known about the genetic variations of miRNA genes and their impact on the functioning of miRNA genes and human diseases. To shed more light on the potential effects of genetic variants in miRNA genes, we review here representative examples of SNPs, mutations linked to Mendelian diseases, and cancer somatic mutations located in miRNA genes and discuss their potential effects on the expression of miRNA genes, i.e., the structure and processing of miRNA precursors, the levels of generated miRNAs, miRNA target recognition/silencing, and impact on human diseases.

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  • Mutations in miRNA genes may affect miRNA biosynthesis, expression levels, 5p/3p balance, processing accuracy, and target recognition specificity.

    “Recently studies have analyzed genetic variants in miRNA genes, indicating that mutations may affect the substantial biosynthesis of miRNAs, leading to alterations in miRNA expression levels, 5p/3p miRNA balance, miRNA processing accuracy, and miRNA target recognition specificity [10].”

    From Recent advances of miR-23 in human diseases and growth development (2025) · cites this paper as [10]

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Authors
Machowska, M., Galka-Marciniak, P., & Kozlowski, P.
Affiliations
  • Institute of Bioorganic Chemistry, Polish Academy of Sciences (PL)
  • Department of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland
ORCID
Venue
Computational and Structural Biotechnology Journal
Publisher
American Association for the Advancement of Science (AAAS)
Published
2022-01
Volume
20
Pages
6443-6457
ISSN
2001-0370 (ISSN-L)
DOI
10.1016/j.csbj.2022.11.036
PMC
PMC9708458
OpenAlex
W4309772381
Cited by
40
References
171
Citations by year
2026: 7 · 2025: 12 · 2024: 14 · 2023: 7
FWCI
1.00
Type
journal article
Language
en
Open access
Licence
Locations
  • Computational and Structural Biotechnology Journal (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
Narodowe Centrum Nauki (2016/22/A/NZ2/00184, 2020/39/B/NZ5/01970, 2020/39/D/NZ2/03106)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › MicroRNA in disease regulation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Keywords
microRNA, single nucleotide polymorphisms, monogenic disorders, miRNA target recognition, post-transcriptional regulation, disease susceptibility

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