Identification of apoE-related glomerulopathy using renal biopsy specimens.

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K06930
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 49020:Human pathology-related
• Research Institution: Kyorin University
• Principal Investigator: Nagahama Kiyotaka 杏林大学, 医学部, 准教授 (00336538)
• Co-Investigator(Kenkyū-buntansha): 福冨 俊之 杏林大学, 医学部, 助教 (30439187)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: apoE / 糸球体腎炎 / 遺伝子解析 / 脂質異常症

Outline of Final Research Achievements

This research aimed to identify novel cases of apoE-related nephropathy by examining apoE deposition in past renal biopsy specimens. Over the three-year research period, methods for determining the nucleotide sequences of the apoE gene were established, and their effectiveness was confirmed using previously reported cases of apoE nephropathy from other institutions. Renal biopsy specimens from the past 30 years at Kyorin University Hospital were screened for cases with suspected deposits other than immune complexes, and the apoE gene sequences were examined; however, no new cases of apoE-related nephropathy were identified. Nevertheless, the established analytical methods enable the accumulation of a larger number of cases and rapid analysis of the apoE gene in the future. The research holds academic and social significance in contributing to the elucidation of rare diseases and the advancement of kidney disease research.

Free Research Field

糸球体腎炎

Academic Significance and Societal Importance of the Research Achievements

本研究では、腎生検パラフィン切片からapoE遺伝子の塩基配列を決定する方法を確立し、その有効性を実証した。この方法により、多数の症例から短期間でapoE関連腎症の原因となる遺伝子変異を同定することが可能となった。希少疾患であるapoE関連腎症の実態解明と新規症例の発見に貢献し、早期診断・治療による予後改善に寄与することが期待される。さらに、本研究で確立した手法は、他の遺伝性腎疾患の研究にも応用可能であり、腎臓病の病態解明と新たな治療法の開発に広く貢献し得る。このように、本研究は希少疾患の解明と腎臓病研究の発展に寄与する学術的・社会的意義を有している。