MicroRNA and Rare Human Diseases
Open accessAbstract
Background: The role of microRNAs (miRNAs) in the pathogenesis of rare genetic disorders has been gradually discovered. MiRNAs, a class of small non-coding RNAs, regulate gene expression by silencing target messenger RNAs (mRNAs). Their biogenesis involves transcription into primary miRNA (pri-miRNA), processing by the DROSHA–DGCR8 (DiGeorge syndrome critical region 8) complex, exportation to the cytoplasm, and further processing by DICER to generate mature miRNAs. These mature miRNAs are incorporated into the RNA-induced silencing complex (RISC), where they modulate gene expression. Methods/Results: The dysregulation of miRNAs is implicated in various Mendelian disorders and familial diseases, including DICER1 syndrome, neurodevelopmental disorders (NDDs), and conditions linked to mutations in miRNA-binding sites. We summarized a few mechanisms how miRNA processing and regulation abnormalities lead to rare genetic disorders. Examples of such genetic diseases include hearing loss associated with MIR96 mutations, eye disorders linked to MIR184 mutations, and skeletal dysplasia involving MIR140 mutations. Conclusions: Understanding these molecular mechanisms is crucial, as miRNA dysregulation is a key factor in the pathogenesis of these conditions, offering significant potential for the diagnosis and potential therapeutic intervention.
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Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract
Hughes, A. E., Bradley, D. T., Campbell, M., Lechner, J., Dash, D. P., Simpson, D. A., & Willoughby, C. E. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.014 · Cited by 276 · see citing works
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene, G., Suzuki, H. I., Taylan, F., Mirzamohammadi, F., Borochowitz, Z. U., Ayturk, U. M., Tzur, S., Horemuzova, E., Lindstrand, A., Weis, M. A., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0353-2 · Cited by 103 · cited 2× · see citing works
“A detailed understanding of the specific targets and molecular pathways disrupted by such mutations is essential for developing targeted therapies for skeletal dysplasia disorders [36,37].”
BackgroundSoldà, G., Robusto, M., Primignani, P., Castorina, P., Benzoni, E., Cesarani, A., Ambrosetti, U., Asselta, R., & Duga, S. (2012) · Human Molecular Genetics · doi:10.1093/hmg/ddr493 · Cited by 102 · see citing works
Mutational Analysis of <i>MIR184</i> in Sporadic Keratoconus and Myopia
Lechner, J., Bae, H. A., Guduric-Fuchs, J., Rice, A., Govindarajan, G., Siddiqui, S., Abi Farraj, L., Yip, S. P., Yap, M., Das, M., et al. (2013) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.13-12035 · Cited by 78 · see citing works
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- Authors
- Goel, H., & Goel, A.
- Affiliations
- Hunter Genetics (AU)
- Torrens University Australia (AU)
- Corresponding author
- Goel, Himanshu
- ORCID
- Goel, Himanshu
- Venue
- Genes
- Publisher
- MDPI AG
- Published
- 2024-09-25
- Volume
- 15
- Issue
- 10
- Pages
- 1243
- ISSN
- 2073-4425 (ISSN-L)
- PMC
- PMC11507005
- OpenAlex
- W4402850344
- Cited by
- 21
- References
- 4
- Citations by year
- 2026: 13 · 2025: 8
- FWCI
- 1.02
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Genes (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Figshare (submittedVersion, cc-by)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › MicroRNA in disease regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- microRNA, rare genetic disorders, microRNA biogenesis, DICER1 syndrome, neurodevelopmental disorders, hearing loss, eye diseases, skeletal dysplasia, RNA-induced silencing complex, gene expression regulation
- MeSH terms
- Gene Expression Regulation, Humans, Mutation, Rare Diseases, MicroRNAs, Ribonuclease III, DEAD-box RNA Helicases, Neurodevelopmental Disorders
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