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Cell Membrane Repair Assay Using a Two-photon Laser Microscope
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Dysferlin mutations and mitochondrial dysfunction.

Amy E Vincent1, Hannah S Rosa1, Charlotte L Alston1

  • 1Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

Neuromuscular Disorders : NMD
|September 27, 2016
PubMed
Summary
This summary is machine-generated.

Dysferlinopathies, caused by DYSF gene mutations, lead to increased mitochondrial complex I and IV deficiency in skeletal muscle. However, these patients do not exhibit large-scale mitochondrial DNA rearrangements.

Keywords:
Cytochrome c oxidase deficiencyDysferlinHistochemistryImmunofluorescenceLGMD2BMitochondria

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • Dysferlinopathies result from DYSF gene mutations, impacting muscle membrane repair and calcium (Ca2+) homeostasis.
  • Dysfunctional membrane repair in dysferlinopathies may lead to increased cytosolic Ca2+, potentially affecting mitochondria due to their Ca2+ buffering role.

Purpose of the Study:

  • To investigate and characterize mitochondrial defects in skeletal muscle biopsies from patients with dysferlinopathies.
  • To determine if mutations in the DYSF gene are associated with abnormalities in mitochondrial oxidative phosphorylation and mitochondrial DNA (mtDNA).

Main Methods:

  • Quadruple immunofluorescent assay was employed to quantify oxidative phosphorylation protein abundance in skeletal muscle fibers.
  • Long-range PCR was utilized on single muscle fibers to detect large-scale mtDNA rearrangements in patients.

Main Results:

  • A higher percentage of complex I- and complex IV-deficient muscle fibers were observed in patients with DYSF mutations compared to age-matched controls.
  • No evidence of clonally expanded large-scale mtDNA deletions was found in the skeletal muscle fibers of the analyzed patients.

Conclusions:

  • Patients with dysferlinopathies exhibit increased deficiency in mitochondrial complexes I and IV, suggesting mitochondrial dysfunction.
  • The observed mitochondrial respiratory chain deficiency is hypothesized to stem from elevated cytosolic Ca2+ levels, rather than mtDNA rearrangements, due to impaired membrane repair.