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The increased chromosomal DNA damage in patients with Familial Mediterranean Fever

Aslihan Kiraz1, Hamiyet Eciroglu2,3, Pınar Altin-Celik3

  • 1Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Biotechnic & Histochemistry : Official Publication of the Biological Stain Commission
|August 2, 2024
PubMed

Insights

Familial Mediterranean Fever (FMF) patients show increased chromosomal DNA damage, indicated by higher micronuclei and nucleoplasmic bridges. This suggests a potential elevated cancer risk in untreated FMF individuals.

Area of Science:

  • Genetics
  • Immunology
  • Cell Biology

Background:

  • Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
  • The MEFV gene mutations M694V and R202Q are prevalent in Turkish populations.
  • Assessing DNA damage in FMF patients is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To evaluate chromosomal DNA damage and cell proliferation in untreated FMF patients.
  • To utilize the cytokinesis-block micronucleus cytome (CBMN-cyt) assay for this assessment.
  • To investigate lymphocytes of FMF patients with common MEFV mutations (M694V, R202Q).

Main Methods:

  • The study involved 20 untreated FMF patients (M694V/R202Q mutations) and 20 healthy controls.
  • Peripheral blood lymphocytes were analyzed using the CBMN-cyt assay.
  • Micronuclei (MN), nucleoplasmic bridges (NPBs), nuclear buds (NBUDs), and nuclear division index (NDI) were quantified.

Main Results:

  • FMF patients exhibited significantly higher frequencies of MN and NPBs compared to controls (p < 0.05, p < 0.01).
  • A significantly lower number of metaphases was observed in FMF patients (p < 0.01).
  • No significant differences were found in NBUDs frequencies or NDI values between FMF patients and controls (p > 0.05).

Conclusions:

  • This is the first study to use the CBMN-cyt assay to evaluate FMF patients' lymphocytes.
  • Elevated MN and NPB frequencies may serve as biomarkers for chromosomal DNA damage in FMF.
  • These findings suggest a potential for increased cancer risk in untreated FMF patients.
Keywords:
CBMN-cyt assayDNA damageFamilial Mediterranean Fever (FMF)Micronucleus (MN)nucleoplasmic bridges (NPBs)

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