Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

ABSTRACT:

Background

Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to characterize the impact of the mutations in MT-ND genes, including the novel m.13091 T > C variant, on the course of the disease, and to analyse the activities of respiratory chain complexes, the amount of protein subunits, and the mitochondrial energy-generating system (MEGS) in available muscle biopsies and cultivated fibroblasts.

Methods

The respiratory chain complex activities were measured by spectrophotometry, MEGS were analysed using radiolabelled substrates, and protein amount by SDS-PAGE or BN-PAGE in muscle or fibroblasts.

Results

In our co

SUBMITTER: Danhelovska T 

PROVIDER: S-EPMC6988306 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature