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Multifaceted functions of RNA-binding protein vigilin in gene silencing, genome stability, and autism-related disorders.

The Journal of biological chemistry2023

Mushtaq Arjamand, Mir Ulfat Syed, Altaf Mohammad

What this study means for families

Scientists reviewed a protein called vigilin that helps control how genes work in cells. This protein is involved in many important cell functions, including protecting DNA from damage and controlling which genes are turned on or off. The researchers suggest this protein might be connected to autism and cancer, though more research is needed to understand these connections.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Research summary

This review examines vigilin, a RNA-binding protein with KH domains that regulates multiple cellular processes. The authors discuss vigilin's established roles in RNA transport, metabolism, sterol metabolism, and chromosome segregation. Recent research has identified vigilin as essential for heterochromatin-mediated gene silencing and critical for DNA double-strand break repair through homology-directed repair mechanisms. The review explores vigilin's multifaceted functions across gene expression regulation, genome organization, and its potential involvement in cancer and autism-related disorders, though specific mechanisms linking vigilin to autism are not detailed in the abstract.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Key findings

  • 1

    Vigilin is essential for heterochromatin-mediated gene silencing in fission yeast

    Confidence: moderateRelevance: Provides mechanistic insights into gene regulation processes that may be disrupted in neurodevelopmental conditions
  • 2

    Human vigilin plays a critical role in DNA double-strand break repair through homology-directed repair

    Confidence: moderateRelevance: DNA repair defects are implicated in various neurodevelopmental disorders and may contribute to autism pathophysiology
  • 3

    Vigilin is associated with autism-related disorders

    Confidence: emergingRelevance: Suggests potential biomarker or therapeutic target, though specific mechanisms require further investigation

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Clinical implications

The potential link between vigilin dysfunction and autism-related disorders warrants further investigation. Understanding vigilin's role in gene silencing and DNA repair may inform future research into autism pathophysiology and identify novel therapeutic targets.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Limitations

This is a review article without new experimental data. The connection between vigilin and autism-related disorders is mentioned but not elaborated upon in the abstract. No specific sample sizes, methodological details, or quantitative findings are provided.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Original abstract

RNA-binding proteins (RBPs) are emerging as important players in regulating eukaryotic gene expression and genome stability. Specific RBPs have been shown to mediate various chromatin-associated processes ranging from transcription to gene silencing and DNA repair. One of the prominent classes of RBPs is the KH domain-containing proteins. Vigilin, an evolutionarily conserved KH domain-containing RBP has been shown to be associated with diverse biological processes like RNA transport and metabolism, sterol metabolism, chromosome segregation, and carcinogenesis.

We have previously reported that vigilin is essential for heterochromatin-mediated gene silencing in fission yeast. More recently, we have identified that vigilin in humans plays a critical role in efficient repair of DNA double-stranded breaks and functions in homology-directed DNA repair. In this review, we highlight the multifaceted functions of vigilin and discuss the findings in the context of gene expression, genome organization, cancer, and autism-related disorders.

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Evidence Grade

Emerging

emerging

Grade assigned by AutismInsights based on study type and published abstract.

Study Details

Type
Review
Journal
The Journal of biological chemistry
Year
2023
PMID
36758804
DOI
10.1016/j.jbc.2023.102988

MeSH Terms

HumansAutistic DisorderRNA-Binding ProteinsGene SilencingSchizosaccharomycesGenomic Instability