Annual Report 2001–02

傑出研究計劃 outstandingResearchproject 醫學院 F a c u l t y o f M e d i c i n e 香港華人生化遺傳病 Inherited Metabolic Diseases in Chinese 化學病理學系鄧亮生敎授領導的研究小組，發現了卡尼丁(肉毒鹼)缺乏症的致病 基因 OCTN 2 。 患上此症的病童，體內的脂肪酸難以正常分解，會出現急性代謝 病、心肌病，甚至猝死。發現這致病基因，對有關的診斷和治療有莫大幫助， 可免病童夭折。研究小組其後的跟進研究發現，卡尼丁缺乏症是華南常見的生化 遺傳病，而該區人口帶有同源的基因突變，顯示此突變源自同一先祖。 化學病理學系與兒科學系於一九九七年創立了全港首間生化遺傳病的專科診所， 醫治患上各種生化遺傳病的病人，並收集到不少首度在中國人身上出現的病例， 研究已聚焦在生化遺傳病的分子基因。研究小組最近獲余兆麒醫療基金資助， 擴展研究範疇和臨床檢驗。 Ledby Prof. Nelson L.S. Tang of the Department of Chemical Pathology, CUHK researchers identified a gene called OCTN2, which causes Primary Carnitine Deficiency. Young children with the deficiency cannot effectively generate energy from the breakdown of fatty acids. This metabolic blockage results in acute metabolic derangements, cardiomyopathy, and even sudden death during infancy. The discovery of the OCTN2 gene allows early identification of affected infants for appropriate treatment, which can often save lives. Further research on families from other areas of South China indicated that Primary Carnitine Deficiency is prevalent in the region, whose population, descendants from a common ancestral lineage, seem to carry a 'founder' mutation in this gene. In 1997, the Departments of Chemical Pathology and Pediatrics jointly established the first metabolic clinic in Hong Kong to treat patients with various inherited metabolic diseases (IMD), and the project has been generating useful data to characterize disease entities unique to Chinese. Research focus has been the molecular basis of IMD, such as glutaric aciduria. Funding from the S.K. Yee Medical Foundation has recently been obtained to extend the scope of research to other metabolic diseases and the clinical application of new findings.