Werner Syndrome: Symptoms, Hallmarks of Aging, Molecular Mechanisms and Therapeutic Pathway Inhibitors

Tabassum Howlader; Kamron Yunusov; Annie Xiang

doi:10.18192/osurj.v5i1.8073

Syndrome de Werner : symptômes, marques du vieillissement, mécanismes moléculaires et inhibiteurs des voies thérapeutiques

Auteurs-es

Tabassum Howlader University of Ottawa, Ottawa, ON, Canada
Kamron Yunusov University of Ottawa, Ottawa, ON, Canada
Annie Xiang University of Ottawa, Ottawa, ON, Canada

DOI :

https://doi.org/10.18192/osurj.v5i1.8073

Résumé

Le syndrome de Werner (SW) est une maladie progéroïde autosomique récessive rare, caractérisée par un vieillissement accéléré et par l’apparition précoce de problèmes normalement associés à l’âge, comme un retard de croissance, des cataractes, des maladies cardiovasculaires, des cancers, la sarcopénie, l’ostéoporose et le diabète. Les manifestations cliniques commencent généralement entre l’adolescence et le début de l’âge adulte, puis entraînent une espérance de vie plus courte que chez les personnes en bonne santé. Le SW est causé par des mutations avec perte de fonction dans le gène WRN, qui code une hélicase de la famille RecQ impliquée dans la réparation de l’ADN, la réplication de l’ADN et le maintien des télomères. Lorsque l’activité fonctionnelle de cette hélicase RecQ est déficiente, plusieurs dysfonctionnements apparaissent et relient le SW aux grandes marques du vieillissement, notamment l’instabilité génomique, le raccourcissement des télomères et la sénescence cellulaire prématurée. À ce jour, il n’existe aucun traitement curatif pour le SW. Les thérapies actuelles visent surtout la prise en charge de la maladie, entre autres par l’inhibition de protéines importantes dans les voies de signalisation liées au vieillissement et au stress, comme mTOR et p38 MAPK. Ces approches émergentes ont donné des résultats prometteurs dans des modèles cellulaires, mais elles n’ont pas encore été testées dans des études cliniques chez l’humain. Cette revue examine donc le SW comme modèle potentiel pour mieux comprendre les mécanismes du vieillissement, ainsi que les implications des résultats actuels pour orienter de nouvelles stratégies thérapeutiques.

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Publié-e

2026-06-17

Numéro

Vol. 5 No. 1 (2026)

Rubrique

Revue

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