A case of NASH with genetic predisposition successfully treated with an SGLT2 inhibitor: a possible involvement of mitochondrial dysfunction
Abstrak
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.
Topik & Kata Kunci
Penulis (29)
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
Akses Cepat
- Tahun Terbit
- 2022
- Sumber Database
- DOAJ
- DOI
- 10.1530/EDM-22-0368
- Akses
- Open Access ✓