Analysis of ceruloplasmin-related genes in pediatric patients with nonalcoholic fatty liver diseases.

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K11638
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 59040:Nutrition science and health science-related
• Research Institution: University of Tsukuba
• Principal Investigator: Tagawa Manabu 筑波大学, 医学医療系, 講師 (50714606)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 小児 / 肥満 / 脂肪性肝炎 / セルロプラスミン

Outline of Final Research Achievements

Background: In adults, nonalcoholic fatty liver disease is recognized as a lifestyle-related disease, but in children, congenital metabolic diseases may present a similar clinical picture and must be differentiated. Methods: We examined for mutations in genes involved in ceruloplasmin synthesis and metabolism in children with obesity and liver dysfunction. Written Informed consent for the study was taken from the patient and the parent.DNA was extracted from whole blood and five genes (PANK2, PLA2G6, CP, ATP7B, and LIPA) were analyzed using a next-generation sequencing system (Thermo Fisher Scientific). Results: Four patients were included in this study. No pathological mutations were detected in any of the patients. Conclusions: Liver dysfunction in obese children did not appear to be associated with mutations in genes related to ceruloplasmin metabolism.

Free Research Field

消化器病学

Academic Significance and Societal Importance of the Research Achievements

成人において非アルコール性脂肪性肝疾患は生活習慣病の一つとして認識されているが、小児においては先天性の代謝性疾患が同様の臨床像を呈することがあるため、その鑑別が求められる。本研究では、肥満の小児における肝機能障害の成因のひとつとして、セルロプラスミン代謝に関連する遺伝子変異を解析した。結果として、症例数が多くないこともあり、対象4名に当該遺伝子異常を指摘できなかった。一般人口における代謝性疾患の発症頻度は高くないため、小児においても肥満と肝機能障害を認めた際には、まずは成人と同様に生活習慣の改善などを指導するのがよいと思われた。