Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

ABSTRACT:

Objectives

Historically, mitochondrial disorders have been associated with predominantly multisystem or neurological symptoms. If present, hepatic complications were thought to be a late feature. Recently, mutations in at least 4 nuclear genes have been identified in infants presenting with rapidly progressive hepatic failure, which may be precipitated by infection or drugs. We aimed to determine whether hepatic mitochondrial DNA (mtDNA) depletion is associated with apparently isolated hepatic failure in individuals with acute liver failure (ALF) of known or unknown etiologies undergoing liver transplant (LT). In addition, we wished to establish whether there was an excess of mutations in gene known to cause hepatic mtDNA depletion.

Methods

Using previously established metho

SUBMITTER: Helbling D 

PROVIDER: S-EPMC4966813 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature