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Mitochondrial DNA copy number alterations in familial mediterranean fever patients

H B Erdem, A C Ceylan, I Sahin

    Bratislavske Lekarske Listy
    |August 31, 2018
    PubMed
    Abstract

    Insights

    Mitochondrial DNA (mtDNA) copy number significantly decreased in Familial Mediterranean Fever (FMF) patients with M694V homozygous mutation and amyloidosis. This finding highlights mitochondrial dysfunction in FMF pathophysiology.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Immunology

    Background:

    • Familial Mediterranean Fever (FMF) is an autoinflammatory disorder characterized by recurrent fever and serositis.
    • Amyloidosis is a serious complication of FMF, leading to organ damage.
    • Mitochondrial DNA (mtDNA) copy number variations have been implicated in various diseases.

    Purpose of the Study:

    • To investigate the role of mtDNA copy number variations in FMF patients with M694V homozygous mutation and amyloidosis.
    • To explore the potential of mtDNA copy number as a biomarker for FMF pathophysiology.

    Main Methods:

    • Quantitative real-time PCR (RT-PCR) was used to analyze mtDNA copy number in 50 FMF patients (M694V homozygous mutation, amyloidosis) and 50 healthy controls.
    • MEFV mutations were analyzed using the Pyromark Q24 system.
    • mtDNA levels were calculated using the delta Ct (ΔCt) method.

    Main Results:

    • A statistically significant reduction in mtDNA copy number was observed in FMF patients compared to healthy controls (p < 0.001).
    • This decrease was specifically noted in FMF patients carrying the M694V homozygous mutation and experiencing amyloidosis.

    Conclusions:

    • The study identified decreased mtDNA copy number in leukocytes of FMF patients, indicating mitochondrial dysfunction.
    • These findings contribute to understanding the molecular mechanisms underlying FMF and its complications like amyloidosis.
    Keywords:
    amyloidosis MEFV.familial mediterranean fevermitochondrial DNA

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