The University of Osaka · 의학
마리 와타야-카네다 교수의 연구실은 터버스클로시스 복합체(Tuberous Sclerosis Complex, TSC)의 유전적 기전과 임상적 표현형에 대한 심층적인 연구를 중심으로 진행되고 있습니다. 특히 TSC 유전자(TSC1/TSC2)가 조절하는 mTOR 신호 경로의 기전 규명과 이를 바탕으로 한 표적 치료법 개발, 특히 국소용 라파모이신 및 타크로리무스 제제를 활용한 피부병변(안지오플라스모마) 치료의 안전성과 효과성에 초점을 맞추고 있습니다. 어린 시절 조기 치료의 중요성과 장기적인 임상 경과 분석을 통해 TSC 환자의 삶의 질 향상을 목표로 하고 있습니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
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.
