Association between juvenile cataract and galactosemia including the novel etiologic gene GALM

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K16845
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Tohoku University
• Principal Investigator: Wada Yoichi 東北大学, 大学病院, 助教 (60843670)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: GALM欠損症 / ガラクトース血症IV型 / 若年性白内障

Outline of Final Research Achievements

Galactose mutarotase deficiency is an inborn error of metabolism caused by impaired function of galactose mutarotase. Since carriers of pathological variants in the galactose metabolic pathway are reported to have an increased risk of cataract, this study examined whether carriers of galactosemia, including the GALM gene, could be associated with an risk of juvenile cataract. Gene panel analysis was performed on DNA samples of juvenile cataract obtained from bioresources, but did not reveal significantly more carriers of the hereditary disease with high galactose levels compared to public genome databases.

Free Research Field

先天代謝異常

Academic Significance and Societal Importance of the Research Achievements

本研究では、ガラクトースムタロターゼ欠損症の保因者であることは、60歳未満の白内障のリスク上昇に繋がるとは言えないという結果であり、同様の年齢層の保因者において眼科的フォローアップの必要性は一般集団と同様であると考えられた。今後は小児期や高齢者、また日本人以外の集団など、異なる対象におけるリスク評価研究が期待される。