Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India

Mitochondrion. 2015 Nov;25:6-16. doi: 10.1016/j.mito.2015.08.002. Epub 2015 Sep 1.


Background: Large studies analyzing magnetic resonance imaging correlates in different genotypes of mitochondrial disorders are far and few. This study sought to analyze the pattern of magnetic resonance imaging findings in a cohort of genetically characterized patients with mitochondrial disorders.

Methods: The study cohort included 33 patients (age range 18 months-50 years, M:F - 0.9:1) with definite mitochondrial disorders seen over a period of 8 yrs. (2006-2013). Their MR imaging findings were analyzed retrospectively.

Results: The patients were classified into three groups according to the genotype, Mitochondrial point mutations and deletions (n=21), SURF1 mutations (n=7) and POLG1 (n=5). The major findings included cerebellar atrophy (51.4%), cerebral atrophy (24.2%), signal changes in basal ganglia (45.7%), brainstem (34.2%) & white matter (18.1%) and stroke like lesions (25.7%). Spinal cord imaging showed signal changes in 4/6 patients. Analysis of the special sequences revealed, basal ganglia mineralization (7/22), lactate peak on magnetic resonance spectrometry (10/15), and diffusion restriction (6/22). Follow-up images in six patients showed that the findings are dynamic. Comparison of the magnetic resonance imaging findings in the three groups showed that cerebral atrophy and cerebellar atrophy, cortical signal changes and basal ganglia mineralization were seen mostly in patients with mitochondrial mutation. Brainstem signal changes with or without striatal lesions were characteristically noted in SURF1 group. There was no consistent imaging pattern in POLG1 group.

Conclusion: Magnetic resonance imaging findings in mitochondrial disorders are heterogeneous. Definite differences were noted in the frequency of anatomical involvement in the three groups. Familiarity with the imaging findings in different genotypes of mitochondrial disorders along with careful analysis of the family history, clinical presentation, biochemical findings, histochemical and structural analysis will help the physician for targeted metabolic and genetic testing.

Keywords: MELAS; MRI; Mitochondrial disorders; POLG1; SURF1; Stroke like lesions; m.3243A>G.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics
  • Humans
  • India
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mitochondrial Diseases / pathology*
  • Mitochondrial Proteins / genetics
  • Point Mutation
  • Retrospective Studies
  • Sequence Deletion
  • Young Adult


  • Membrane Proteins
  • Mitochondrial Proteins
  • Surf-1 protein
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human