Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances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

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Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances

Authors:	Yoko Sangatsuda Masayuki Nakamura Akiyuki Tomiyasu Akiko Deguchi Yasutaka Toyota Yu-ichi Goto Ichizo Nishino Shu-ichi Ueno Akira Sano

Institution:	1. Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan;2. Department of Neuropsychiatry, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan;3. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan;4. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan;1. Hospital Putrajaya, Federal Territory of Putrajaya, Malaysia;2. Cyberjaya University College of Medical Science, Cyberjaya, Malaysia;3. Hospital Kajang, Selangor, Malaysia;4. Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia;5. Brain Mind Specialist Clinic, Petaling Jaya, Malaysia;6. Hospital Sandakan, Sabah, Malaysia;7. Hospital Bahagia Ulu Kinta, Perak, Malaysia;8. Hospital Permai, Johor, Malaysia;1. Laboratory for Molecular Brain Science, Department of Life Science and Medical Bioscience, Science and Engineering, Waseda University, Tokyo 162-8480, Japan;2. Functional Genomics Section, Laboratory of Cell and Developmental Biology, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA;3. Laboratory for Developmental Neurobiology, Brain Science Institute, RIKEN, Wako, Saitama 351-0198, Japan;4. Laboratory of Neurophysiology, Department of Life Science and Medical Bio-Science, Science and Engineering, Waseda University, Tokyo 162-8480, Japan;1. NARO Hokkaido Agricultural Research Center, Sapporo 062-8555, Japan;2. Rakuno Gakuen University, Ebetsu 069-8501, Japan;3. Hokkaido Dairy Milk Recording and Testing Association, Sapporo 060-0004, Japan;4. Holstein Cattle Association of Japan, Hokkaido Branch, Sapporo 001-8555, Japan;5. Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080-8555, Japan;1. Division of Chemistry, Graduate School of Engineering Science, Osaka University, Toyonaka, Osaka 560-8531, Japan;2. Division of Dynamic Proteome, Institute of Development, Aging, and Cancer, Tohoku University, Seiryomachi 4-1, Aobaku, Sendai 980-8575, Japan;1. Department of Psychology, Michigan State University, East Lansing, MI 48824, USA;2. Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA;1. LISM; EA 4695 Faculty of Sciences, BP 1039, 51687 Reims Cedex 2, France;2. Malaysia–Japan International Institute of Technology, Universiti Teknologi Malaysia, Jalan Semarak, 54100 Kuala Lumpur, Malaysia;3. Steel Research Laboratory, JFE Steel Corporation, 1 Kawasaki-cho, Chuo-ku, Chiba 260-0835, Japan

Abstract:	Homoplasmic m.1624C>T mutation of the mitochondrial tRNA^Val gene was previously demonstrated to cause fatal neonatal Leigh syndrome. Here, we report the clinical phenotypes of a Japanese male and his mother with heteroplasmic m.1624C>T mutation. The 36-year-old male presented with repeated episodes of consciousness disturbance since the age of 25, cognitive decline, and personality change. Cerebrospinal fluid levels of lactate and pyruvate were elevated. His mother showed similar symptoms and course. The mutation m.1624C>T was identified heteroplasmically in the proband's muscle and leukocytes and in the mother's leukocytes. The heteroplasmy load decreased with age.

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