Mitochondrial Copy Number and D-Loop Variants in Pompe Patients

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Fatemeh Bahreini1, Massoud Houshmand2, Mohammad Hossein Modaresi1

  • 1Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Cell Journal
|September 8, 2016
PubMed
Abstract

Insights

Mitochondrial DNA copy number was lower in infantile Pompe disease patients compared to adults. A novel mitochondrial variant, 317-318 ins CCC, was identified in Pompe patients, suggesting a role in this neuromuscular disorder.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Neuromuscular Disorders

Background:

  • Pompe disease is a rare genetic neuromuscular disorder with infantile and late-onset forms.
  • Mitochondrial abnormalities are increasingly recognized as significant factors in neuromuscular diseases.
  • This study investigates mitochondrial DNA (mtDNA) in Pompe disease patients.

Purpose of the Study:

  • To compare mitochondrial DNA copy number and displacement-loop (D-loop) sequence variation in infantile and adult Pompe disease patients.
  • To identify potential novel mitochondrial variants associated with Pompe disease.

Main Methods:

  • Retrospective analysis of mtDNA D-loop sequences from 28 Pompe patients (17 infants, 11 adults) using PCR and direct sequencing.
  • Comparison of patient sequences with 100 healthy controls and the Cambridge reference sequence.
  • Quantification of mtDNA copy number using real-time PCR.

Main Results:

  • 59 mtDNA variants were identified; 37% in infants, 23% in adults, and 13% in both.
  • Infant Pompe patients exhibited significantly lower mtDNA copy number than adult patients (P<0.05).
  • A novel insertion (317-318 ins CCC) was observed in Pompe patients, and an inverse association between mtDNA copy number and D-loop variant number was found (r=0.54).

Conclusions:

  • The novel mitochondrial variant 317-318 ins CCC was identified in Pompe disease patients.
  • Mitochondrial DNA copy number and D-loop sequence variations differ between infantile and adult Pompe disease.
  • Mitochondrial abnormalities may play a role in the pathogenesis of Pompe disease.
Keywords:
Copy NumberD-LoopMitochondrial DNAPompe

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