| Autor: |
Rikako Nakajima, Motohiro Sekiya, Yasuhisa Furuta, Takafumi Miyamoto, Masashi Sato, Kuniaki Fukuda, Keiichiro Hattori, Yasuhito Suehara, Mamiko Sakata-Yanagimoto, Shigeru Chiba, Yuka Okajima, Takashi Matsuzaka, Satoru Takase, Mikio Takanashi, Hiroaki Okazaki, Yusuke Takashima, Mikiko Yuhara, Yuta Mitani, Nako Matsumoto, Yuki Murayama, Mariko Ohyama Osawa, Nami Ohuchi, Daichi Yamazaki, Sayuri Mori, Yoko Sugano, Yoshinori Osaki, Hitoshi Iwasaki, Hiroaki Suzuki, Hitoshi Shimano |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-7 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2052-0573 |
| DOI: |
10.1530/EDM-22-0368 |
| Popis: |
In this study, we herein describe a 47-year-old Japanese woman who manifested inheritable non-alcoholic steatohepatitis (NASH) and severe dyslipidemia. Interestingly, her NASH progression was ameliorated by treatment with a sodium– glucose co-transporter 2 (SGLT2) inhibitor. This inheritability prompted us to comprehensively decode her genomic information using whole-exome sequencing. We found the well-established I148M mutation in PNPLA3 as well as mutations in LGALS3 and PEMT for her NASH. Mutations in GCKR may contribute to both NASH and dyslipidemia. We further mined gene mutations potentially responsible for her manifestations that led to the identification of a novel M188fs mutation in MUL1 that may be causally associated with her mitochondrial dysfunction. Our case may provide some clues to better understand this spectrum of disease as well as the rationale for selecting medications. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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