ArticleOrphanet journal of rare diseases2019
mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 6 citations in OpenAlex.
- Cutaneous signs of selected cardiovascular disorders: A narrative review.Open medicine (Warsaw, Poland) · 2024Review
- Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging.Frontiers in cardiovascular medicine · 2024Article
- Friend or foe? Unraveling the complex roles of protein tyrosine phosphatases in cardiac disease and development.Cellular signalling · 2022Review
- Targeting a Pathogenic Cysteine Mutation: Discovery of a Specific Inhibitor of Y279C SHP2.Biochemistry · 2020Article
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12 authors at 1 institution in 1 country.
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Abstract
backgroundAnimal studies suggested that blocking the activation of the mammalian target of rapamycin (mTOR) pathway might be effective to treat cardiac hypertrophy in LEOPARD syndrome (LS) caused by PTPN11 mutations.
resultsIn the present study, mTOR pathway activity was examined in human myocardial samples from two patients with LS, four patients with hypertrophic cardiomyopathy (HCM), and four normal controls. The two patients with LS had p.Y279C and p.T468 M mutations of the PTPN11 gene, respectively. Although PTPN11 mutation showed initially positive regulation on phosphoinositide 3-kinase, overall the mTOR complex 1 pathway showed widely attenuated activity in LS. This included mildly hypophosphorylated mTOR and ribosomal protein S6 kinase and significantly hypophosphorylated Akt
conclusionsIn LS, the mTOR signaling pathway shows similar activity to HCM and is attenuated compared with normal controls. Thus, caution should be applied when using rapamycin to treat heart hypertrophy in LS.
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