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Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh syndrome
  1. Maciej Pronicki (e.pronicka{at}czd.pl)
  1. Department of Pathology, Children's Memorial Health Institute, Poland
    1. Ewa Matyja
    1. D, Poland
      1. Dorota Piekutowska-Abramczuk (d.abramczuk{at}czd.pl)
      1. Department of Medical Genetics, Children's Memorial Health Institute, Poland
        1. Tamara Szymanska-Debinska
        1. Department of Pathology, Children's Memorial Health Institute, Poland
          1. Agnieszka Karkucinska-Wieckowska
          1. Department of Pathology, Children's Memorial Health Institute, Poland
            1. Elzbieta Karczmarewicz
            1. Department of Biochemistry and Experimetal Medicine, Children's Memorial Health Institute, Poland
              1. Wieslawa Grajkowska
              1. Department of Pathology, Children's Memorial Health Institute, Poland
                1. Tomasz Kmiec
                1. Department of Neurology, Children's Memorial Health Institute, Poland
                  1. Ewa Popowska (e.popowska{at}czd.pl)
                  1. Department of Medical Genetics, Children's Memorial Health Institute, Poland
                    1. Jolanta Sykut-Cegielska (j.cegielska{at}czd.pl)
                    1. Department of Metabolic Diseases, Endocrinology and Diabetology,Children's Memorial Health Institute, Poland

                      Abstract

                      Aims: Leigh disease (LS) is characterised by almost identical brain changes in spite of considerable causal heterogeneity. SURF1 gene mutations are among the most frequent LS causes. Although deficiency of cytochrome oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities were rarely described. The aim is to assess skeletal muscle morphology coexisting with SURF1 mutations in own material and in the literature. Material and Methods: The muscle samples from 21 patients who fulfilled the criteria of LS and carrying SURF1 mutations (14 homozygotes and 7 heterozygotes of c.841delCT) were examined by light and electron microscopy. Results: Diffuse decreased activity or total deficit of COX was revealed histochemically in all examined muscles. No RRFs were seen. Lipid accumulation and fibre size variability were found in 14 and 9 specimens, respectively. Ultrastructural assessment showed several mitochondrial abnormalities, lipid deposits, myofibrillar disorganization and other minor changes. In five cases no ultrastructural changes were found. Apart from slight correlation between lipid accumulation shown by both, histochemical and ultrastructural techniques, no other correlations were revealed between parameters investigated, especially between severity of morphological changes and the patient’s age at the biopsy. Conclusion: Histological and histochemical features of muscle of genetically homogenous SURF1-deficient LS were reproducible in detection of COX deficit. Minor muscle changes were not commonly present. Also ultrastructural abnormalities were not a rule. It should be emphasised that SURF1-deficient muscle assessed in the light and electron microscopy panel may be interpreted as normal if COX staining is not employed.

                      • COX deficiency
                      • Leigh syndrome
                      • SURF1 gene mutations
                      • histochemistry
                      • mitochondrial ultrastructure

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