The University of Osaka · Medicine
Professor Mari Wataya-Kaneda's research lab focuses on tuberous sclerosis complex (TSC), a genetic disorder characterized by benign tumor formation in multiple organs. The lab investigates the molecular mechanisms underlying TSC, particularly the mTOR signaling pathway regulated by the TSC1/TSC2 gene products, and develops targeted therapies such as topical rapamycin for skin manifestations like angiofibromas. The lab also conducts clinical and epidemiological studies to understand the spectrum of TSC manifestations across age groups, especially in Japanese populations, and evaluates the safety and efficacy of novel topical treatments.
Figures are computed from collected data and may differ slightly.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system involvement and variable manifestations. There has been significant progress in TSC research and the development of technologies used to diagnose this disorder. As a result, individuals with mild TSC are now being diagnosed, including many older adults who have not developed seizures or cognitive abnormalities. We conducted a statistical analysis of the frequency of TSC manifestations in a population of Japanese
umin.ac.jp Identifier: UMIN000012420.
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kin
ClinicalTrials.gov Identifier: NCT02635789.
Topical application of rapamycin-tacrolimus ointment is a safe and useful treatment for TSC-related angiofibroma.
Topical rapamycin was significantly effective against angiofibromas. Both formulations used were effective and safe. The 0·2% gel is especially useful because of its better skin penetration and low irritancy. Initiation of topical rapamycin therapy in early childhood would be beneficial for patients with TSC.
Topical rapamycin treatment was effective and safe against hypomelanotic macules arising from TSC. This efficacy of rapamycin was corroborated as stemming from the improvement of impaired melanogenesis in TSC melanocytes.
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Atopic dermatitis (AD), a chronic inflammatory skin disease characterized by relapsing eczema and intense prurigo, requires effective and safe pharmacological therapy. Recently, rapamycin, an mTOR (mammalian target of rapamycin) inhibitor, has been reported to play a critical role in immune responses and has emerged as an effective immunosuppressive drug. In this study, we assessed whether inhibition of mTOR signalling could suppress dermatitis in mice. Rapamycin was topically applied to inflame
Recently, patients with hypohidrotic/anhidrotic ectodermal dysplasia (H/AED) have been reported to have a higher prevalence of symptoms suggestive of atopic disorders than the general population. To better understand atopic diathesis in H/AED, 6 cases of clinically or genetically diagnosed H/AED were examined. The following criteria were evaluated with patient consent: sweating, blood test results, histopathology and filaggrin staining. Five of 6 H/AED cases displayed atopic dermatitis-like mani
ClinicalTrials.gov identifier: NCT02634931.
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