73 64

Cited 5 times in

Mitochondrial Mutations in Cholestatic Liver Disease with Biliary Atresia

 Hong Koh  ;  Gun-Seok Park  ;  Sun-Mi Shin  ;  Chang Eon Park  ;  Seung Kim  ;  Seok Joo Han  ;  Huy Quang Pham  ;  Jae-Ho Shin  ;  Dong-Woo Lee 
 Scientific Reports, Vol.8(1) : 905, 2018 
Journal Title
 Scientific Reports 
Issue Date
Biliary atresia (BA) results in severe bile blockage and is caused by the absence of extrahepatic ducts. Even after successful hepatic portoenterostomy, a considerable number of patients are likely to show progressive deterioration in liver function. Recent studies show that mutations in protein-coding mitochondrial DNA (mtDNA) genes and/or mitochondrial genes in nuclear DNA (nDNA) are associated with hepatocellular dysfunction. This observation led us to investigate whether hepatic dysfunctions in BA is genetically associated with mtDNA mutations. We sequenced the mtDNA protein-coding genes in 14 liver specimens from 14 patients with BA and 5 liver specimens from 5 patients with choledochal cyst using next-generation sequencing. We found 34 common non-synonymous variations in mtDNA protein-coding genes in all patients examined. A systematic 3D structural analysis revealed the presence of several single nucleotide polymorphism-like mutations in critical regions of complexes I to V, that are involved in subunit assembly, proton-pumping activity, and/or supercomplex formation. The parameters of chronic hepatic injury and liver dysfunction in BA patients were also significantly correlated with the extent of hepatic failure, suggesting that the mtDNA mutations may aggravate hepatopathy. Therefore, mitochondrial mutations may underlie the pathological mechanisms associated with BA.
Files in This Item:
T201801248.pdf Download
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Koh, Hong(고홍) ORCID logo https://orcid.org/0000-0002-3660-7483
Kim, Seung(김승) ORCID logo https://orcid.org/0000-0003-4373-9828
Han, Seok Joo(한석주) ORCID logo https://orcid.org/0000-0001-5224-1437
RIS (EndNote)
XLS (Excel)
사서에게 알리기


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.