Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model

We showed that <i>C. elegans</i> could be reliably used for the reclassification of VUS in <i>FH</i>. Importantly, our proposed methodology based on the nematode's quick generation cycle, ease of strain creation, and phenotypic readouts opens the door for future studies on <i>FH</i> using <i>C. elegans</i>, including genotype-phenotype correlation and background effects.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103469
Primary Topic
Genetics, Aging, and Longevity in Model Organisms
Type
article
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article

Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model

Maja Tarailo‐Graovac, Stephen D. Ferris, Ivette M. Menéndez‐Perdomo
Genetics in Medicine Open
Genetics, Aging, and Longevity in Model Organisms
article

Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model

Maja Tarailo‐Graovac, Stephen D. Ferris, Ivette M. Menéndez‐Perdomo
article en

Abstract

We showed that <i>C. elegans</i> could be reliably used for the reclassification of VUS in <i>FH</i>. Importantly, our proposed methodology based on the nematode's quick generation cycle, ease of strain creation, and phenotypic readouts opens the door for future studies on <i>FH</i> using <i>C. elegans</i>, including genotype-phenotype correlation and background effects.

Genetics in Medicine OpenVol. 3
University of Calgary (CA), Alberta Children's Hospital (CA)
Openalex Percentile: Top 72%
Genetics, Aging, and Longevity in Model Organisms
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