Related Experiment Video

Updated: Mar 2, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.3K

Association between MFN2 gene polymorphisms and the risk and prognosis of acute liver failure: a case-control study

Y-L Wei1, Q Tian1, X-X Zhao1

  • 1Department of Infectious Diseases, Linyi People's Hospital, Linyi, China.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
|May 18, 2017
PubMed

Insights

Mitofusin 2 (MFN2) gene variations, specifically rs873457 and rs4846085, are linked to acute liver failure (ALF) risk and patient outcomes. Certain MFN2 genotypes and haplotypes influence disease susceptibility and survival rates.

Area of Science:

  • Genetics
  • Hepatology
  • Molecular Biology

Background:

  • Acute liver failure (ALF) is a critical condition with significant morbidity and mortality.
  • The genetic factors influencing ALF risk and prognosis require further elucidation.
  • Mitofusin 2 (MFN2) plays a role in mitochondrial dynamics and cellular health, potentially impacting liver function.

Purpose of the Study:

  • To investigate the association between MFN2 gene polymorphisms and the risk of developing ALF.
  • To evaluate the impact of MFN2 gene polymorphisms on the prognosis and survival rates of ALF patients.
  • To identify specific MFN2 genetic variants and haplotypes that serve as predictive markers for ALF.

Main Methods:

  • Case-control study involving 138 ALF patients and 160 healthy controls.
  • Genotyping of MFN2 single nucleotide polymorphisms (SNPs) including rs873457, rs2336384, rs1474868, rs4846085, and rs2236055.
  • Biochemical assays measuring liver function markers (GPT, GOT, TB), coagulation function, blood ammonia, and lactic acid.
  • Statistical analyses including Kaplan-Meier survival, haplotype, binary logistic regression, and Cox regression analyses.

Main Results:

  • ALF patients with GG genotype of rs873457 or TT genotype of rs4846085 exhibited higher levels of GPT, GOT, TB, blood ammonia, and LA.
  • The GTACAGC haplotype was associated with a protective effect, while the GTGTGGC haplotype was a risk factor for ALF.
  • Blood ammonia and lactic acid were independent risk factors for ALF, whereas CC genotypes of rs873457 and rs4846085 were protective.
  • Patients with GG genotype of rs873457 or TT genotype of rs4846085 had reduced survival rates.
  • rs4846085 and rs873457 polymorphisms were independent prognostic factors for ALF.

Conclusions:

  • MFN2 gene polymorphisms, particularly rs873457 and rs4846085, are associated with the risk and prognosis of ALF.
  • Specific MFN2 genotypes (CC for rs873457 and rs4846085) and haplotypes (GTACAGC) may confer protection against ALF.
  • Elevated blood ammonia and lactic acid levels are significant risk factors for ALF.
  • MFN2 gene variants rs873457 and rs4846085 serve as potential biomarkers for predicting ALF risk and patient outcomes.

More Related Videos

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen09:44

Generation of a Rat Model of Acute Liver Failure by Combining 70% Partial Hepatectomy and Acetaminophen

Published on: November 27, 2019

11.2K
A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia09:12

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia

Published on: February 3, 2023

3.4K

Related Concept Videos

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
42
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
65
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.8K
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
244
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
56