Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

Ketty Peris, Roberto Colombo, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Sara Pajouhanfar, Soheila Sotoudeh, Parvin Mansouri, Davoud Amirkashani, Sirous Zeinali, Michael A. Levine, Jouni Uitto

Risultato della ricerca: Contributo in rivistaArticolo in rivista

22 Citazioni (Scopus)

Abstract

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a multifactorial condition and the most common liver disease worldwide, affecting more than one-third of the population. So far there have been no reports on mendelian inheritance in families with NAFLD. Methods: We performed whole-exome or targeted next-generation sequencing on patients with autosomal dominant NAFLD. Results: We report a heritable form of NAFLD and/or dyslipidemia due to monoallelic ABHD5 mutations, with complete clinical expression after the fourth decade of life, in 7 unrelated multiplex families encompassing 39 affected individuals. The prevalence of ABHD5-associated NAFLD was estimated to be 1 in 1,137 individuals in a normal population. Conclusion: We associate a Mendelian form of NAFLD and/or dyslipidemia with monoallelic ABHD5 mutations. Lay summary: Non-alcoholic fatty liver disease (NAFLD) is a common multifactorial disorder with a strong genetic component. Inherited forms of NAFLD have been suspected but, their molecular pathogenesis has not been disclosed. Here we report a heritable form of NAFLD with clinical expression after 40 years of age, associated with monoallelic ABHD5 mutations.
Lingua originaleEnglish
pagine (da-a)366-370
Numero di pagine5
RivistaJournal of Hepatology
Volume71
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • ABHD5
  • CGI-58
  • Dyslipidemia
  • Familial aggregation
  • Inheritance
  • Mendelian
  • NAFLD
  • Non-alcoholic fatty liver disease

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