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Review

MicroRNA and Rare Human Diseases

1
Hunter Genetics, Waratah, NSW 2298, Australia
2
School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, NSW 2308, Australia
3
Billy Blue College of Design, Torrens University Australia, Adelaide, SA 5000, Australia
*
Author to whom correspondence should be addressed.
Genes 2024, 15(10), 1243; https://doi.org/10.3390/genes15101243
Submission received: 26 August 2024 / Revised: 19 September 2024 / Accepted: 24 September 2024 / Published: 25 September 2024
(This article belongs to the Special Issue Genetics and Therapy of Neurodevelopmental Disorders)

Highlights

The article “MicroRNA and Rare Human Diseases” provides an in-depth review of the emerging role of microRNAs (miRNAs) in the pathogenesis of rare genetic disorders. MiRNAs, small non-coding RNAs, regulate gene expression primarily by silencing target mRNAs, playing essential roles in both normal cellular processes and disease mechanisms. The dysregulation of miRNA biogenesis and function has been linked to a spectrum of Mendelian and familial disorders, including DICER1 syndrome and various neurodevelopmental disorders. The review highlights specific miRNA mutations, such as those in MIR96, MIR184, and MIR140, that contribute to conditions like hearing loss, ocular abnormalities, and skeletal dysplasia. The article underscores the potential of miRNA-based molecular mechanisms as novel diagnostic and therapeutic approaches in addressing the genetic underpinnings of rare diseases.

Abstract

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.
Keywords: microRNAs; mRNAs; DICER1 syndrome; DROSHA–DGCR8 complex; RISC; argonaute proteins; gene expression microRNAs; mRNAs; DICER1 syndrome; DROSHA–DGCR8 complex; RISC; argonaute proteins; gene expression

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MDPI and ACS Style

Goel, H.; Goel, A. MicroRNA and Rare Human Diseases. Genes 2024, 15, 1243. https://doi.org/10.3390/genes15101243

AMA Style

Goel H, Goel A. MicroRNA and Rare Human Diseases. Genes. 2024; 15(10):1243. https://doi.org/10.3390/genes15101243

Chicago/Turabian Style

Goel, Himanshu, and Amy Goel. 2024. "MicroRNA and Rare Human Diseases" Genes 15, no. 10: 1243. https://doi.org/10.3390/genes15101243

APA Style

Goel, H., & Goel, A. (2024). MicroRNA and Rare Human Diseases. Genes, 15(10), 1243. https://doi.org/10.3390/genes15101243

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