A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

按检索

A novel mutation in the mitochondrial tRNAAla gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

Authors:	Tomàs Pinós Mario Marotta Eduard Gallardo Isabel Illa Jorge Díaz-Manera Emiliano Gonzalez-Vioque Elena García-Arumí Antoni L Andreu Ramon Martí

Institution:	1. Unitat de Patologia Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d''Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain;2. Laboratori de Neurologia Infantil, Institut de Recerca Hospital Universitari Vall d''Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain;3. Servei de Neurologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain;4. CIBERNED, Barcelona, Spain;5. Biomedical Network Research Centre on Rare Diseases (CIBERER), Spain;1. Servicio de Medicina Nuclear, Hospital Universitario “Marqués de Vadecilla”, Universidad de Cantabria, Santander, Spain;2. Servicio de Neurología, Hospital Universitario “Marqués de Vadecilla”, Universidad de Cantabria, Santander, Spain;1. Radiation Oncology, Consorci Sanitari de Terrassa, Institut Oncològic del Vallès (CST-HGC-CSPT), Barcelona, Spain;2. Unitat d’Epidemiologia, Departament de Salut, IRBLleida, Universitat de Lleida, Lleida, Spain;3. Radiation Oncology, Hospital General de Catalunya, Institut Oncològic del Vallès (CST-HGC-CSPT), Barcelona, Spain;4. Institut d’Oncologia Radioteràpica, Parc de salut MAR-Universitat Pompeu Fabra, Barcelona, Spain;5. Medical Oncology, Corporació Sanitària Parc Taulí de Sabadell, Institut Oncològic del Vallès, Barcelona, Spain;6. Medical Oncology, Hospital de Terrassa, Terrassa, Consorci Sanitari de Terrassa, Institut Oncològic del Vallès, Barcelona, Spain;7. Medical Oncology, Hospital Universitari Mutua de Terrasa, Terrasa, Spain;1. Department of Pediatrics, Chinese Liberation Army General Hospital, No. 28 Fu-xing Road, Haidian District, Beijing 100853, People’s Republic of China;2. Department of Pediatrics, Peking University First Hospital, Beijing, People’s Republic of China;1. Servicio de Neurología, Hospital Universitario Marqués de Valdecilla (IFIMAV), Universidad de Cantabria, Santander, España;2. Centro de Investigación Biomédica en Red de Enfermedades Neurodegerenerativas (CIBERNED), Santander, España;3. Servicio de Neurofisiología Clínica, Hospital Universitario Marqués de Valdecilla (IFIMAV), Universidad de Cantabria, Santander, España;1. Immunology Department, Hospital Sant. Pau, Barcelona, Spain;2. Cardiology Department, Hospital Sant. Pau, Barcelona, Spain;3. Cardiac Surgery Department, Hospital Sant. Pau, Barcelona, Spain

Abstract:	We report a heteroplasmic novel mutation m.5636T>C in the mt-tRNA^Ala in a patient with bilateral ptosis and ophthalmoparesis in whom a muscle biopsy showed cytochrome c oxdidase (COX) negative and ragged red fibers. Using laser capture microdissection we have isolated COX negative fibers and COX positive fibers from the muscle of the patient and determined that the mutation load was clearly increased in COX negative muscle fibers. Additionally, the mutated m.5636T nucleotide is conserved in all the mammal and non-mammal species analyzed and might be structurally relevant as it is located in a position involved in the formation of tertiary structure of canonical mitochondrial tRNAs.

Keywords:
本文献已被 ScienceDirect 等数据库收录！

设为首页 | 免责声明 | 关于勤云 | 加入收藏