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A18 Can cumulation of neurodegenerative disorders significantly promote mitochondrial dysfunction in cultured skin fibroblasts?
  1. Marie Vanisova1,
  2. Radoslav Matěj2,
  3. Robert Rusina1,2,
  4. Hana Stufkova1,
  5. Michaela Kohoutova1,
  6. Tereza Danhelovska1,
  7. Jiří Klempíř1,
  8. Jan Roth1,
  9. Jiří Klempíř1,
  10. Hana Hansikova1
  1. 1First Faculty of Medicine, Charles University in Prague, and General University Hospital in Prague, Czech Republic
  2. 2Thomayer Hospital, Prague, Czech Republic


Background Autosomal dominant Huntington’s disease (HD) caused by expansion of CAG triplet in gene for protein huntingtin is characterized by chorea, neuropsychiatric symptoms, and progressive cognitive deterioration, usually beginning during middle age. In elderly patients combination of different neurodegenerations could be seen quite often as ‘overlap syndrome’. But combination of Alzheimer’s disease symptoms, combined with HD and fully evolved Multisystem atrophy (MSA) diagnosed in our proband is unique.

Aim Analysis of mitochondrial impairment level in fibroblasts from the patient with unique combination of late onset HD and fully evolved Multisystem atrophy (MSA) and Alzheimer’s disease (AD).

Methods The study was carried out in cultivated fibroblasts from HD patient’s and controls. Ultrastructure was analysed by transmission electron microscopy, mitochondrial proteins were studied by immunoelectrophoretic methods. Respiration was measured by polarography.

Results Lower number of cristae and pathologic mitochondrial swelling were observed in patient’s fibroblasts in comparison to controls. Reduced levels of CII subunits (SDH70: 35%, SDH30: 74% of control values) and CI, CIII and CIV subunits (CI – NDUFA9: 6%, CIII – Core2: 10%, CIV – Cox1: 14.5% of control values) suggest generalized impairment of mitochondrial ATP synthetic pathway. Respiration in HD patient’s fibroblasts was decreased after addition of all substrates for RCC as well as total respiration was lowered compared to controls.

Conclusions Results confirmed structural and functional changes of mitochondria were more propagated not only in comparison to controls but also in comparison to 10 HD patients with classical course of HD.

Supported by: AZV-MZCR NU20-04-00136, GACR 19-01747S

  • huntington’s disease
  • alzheimer’s disease
  • multisystem atrophy
  • mitochondrial impairment

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