Development of the simple diagnostic method for the patients with chronic progressive external ophthalmoplegia and the construction of the database

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K11479
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: Hikoya Akiko 浜松医科大学, 医学部附属病院, 講師 (80464113)
• Co-Investigator(Kenkyū-buntansha): 佐藤 美保 浜松医科大学, 医学部, 准教授 (50252242) ; 細野 克博 浜松医科大学, 医学部, 助教 (60402260) ; 堀田 喜裕 浜松医科大学, 医学部, 教授 (90173608)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 慢性進行性外眼筋麻痺

Outline of Final Research Achievements

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although pathological examination by muscle biopsy is performed for definitive diagnosis, it is difficult to perform the examination because a biopsy is highly invasive during outpatient treatment. On the other hand, some patients with CPEO have the deletion mutation of mitochondrial DNA (mtDNA). In this study, we performed the genetic test for mtDNA deletion mutation using samples of oral, saliva, or white blood cells of suspected CPEO. As a result, deletion mutations were detected in 6 out of 15 patients with CPEO. In addition, we examined in detail the clinical features of 2 patients of CPEO with chief complaint of the proptosis. It is possibility that proptosis is one of the features of CPEO.

Free Research Field

眼科

Academic Significance and Societal Importance of the Research Achievements

斜視手術は外眼筋の手術治療により良好な成績を修めているが、慢性進行性外眼筋麻痺(CPEO)のように手術治療でも予後不良の疾患を含んでいる。確定診断は筋肉の生検により病理学的に行われているが、侵襲が大きい。一方、ミトコンドリアDNA(mtDNA)の欠失を伴うことが多い事から、本研究ではCPEOが疑われる症例から侵襲の少ない組織(口腔粘膜、唾液、血液)の検体を得て、mtDNA欠失の有無を検討する簡易診断を実施し、複数症例からmtDNAの欠失を同定して確定診断を行った。本研究は診断に苦慮している眼科医の助けになるばかりでなく、全身合併症の早期診断も可能となり患者のQOL向上につながる事が期待できる。