Epigenetic analysis in patients with pubertal disorders.

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K16249
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 54040:Metabolism and endocrinology-related
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Suzuki Erina 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 (60726785)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: エピジェネティック

Outline of Final Research Achievements

We performed epigenetic analysis in patients with pubertal disorders, including central precocious puberty (CPP). CPP is a rare multifactorial disorder and can occur as a result of monogenic mutations. The association between epigenetic defects of MKRN3 and CPP has yet to be determined. We performed genetic and epigenetic analyses of MKRN3 in 24 Asian patients with CPP. We identified an MKRN3 gene mutation in one of 24 patients and epigenetic defects in no patient. The mutation-positive patient exhibited CPP from 5 years of age. This study revealed the frequency and phenotypic consequences of MKRN3 abnormalities.

Free Research Field

代謝および内分泌学関連

Academic Significance and Societal Importance of the Research Achievements

これまで、アジア諸国CPP患者でのMKRN3遺伝子変異報告は少数であった。また、MKRN3遺伝子のエピジェネティック異常は同定されていない。本研究では、アジア諸国CPP患者におけるMKRN3遺伝子の異常の関与の程度と変異陽性患者の臨床像を明らかにした。本研究の成果は、性成熟疾患の分子基盤の理解につながると期待される。