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Published on: February 9, 2020
Investigation of the mitochondrial genome in patients with atypical motor neuron disease
Catherine Phoenix1, Geoffrey A Taylor, Judith Hartley
1Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle, Newcastle NE2 4HH, UK.
Abstract:
The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.
Insights
Inherited mitochondrial DNA mutations are not a common cause of atypical motor neuron disease (MND). This study investigated thirteen patients with atypical MND, finding no pathogenic mutations, suggesting other factors are involved in this neurological disorder.
Area of Science:
- Neuroscience
- Genetics
- Mitochondrial Biology
Background:
- Motor neuron disease (MND) molecular causes are often unknown.
- Mitochondrial dysfunction, including DNA (mtDNA) mutations, is implicated in some neurological disorders.
Purpose of the Study:
- To investigate the role of mitochondrial DNA (mtDNA) abnormalities in patients with atypical motor neuron disease (MND).
Main Methods:
- Whole mitochondrial genome sequencing was performed on a cohort of thirteen patients presenting with atypical MND.
- Analysis focused on identifying pathogenic mtDNA mutations.
Main Results:
- No pathogenic mitochondrial DNA (mtDNA) mutations were detected in the thirteen patients studied.
- This finding suggests inherited mtDNA mutations are not a frequent cause of atypical MND.
Conclusions:
- Inherited mtDNA mutations do not appear to be a common etiological factor in the presented cases of atypical motor neuron disease (MND).
- Further research is needed to explore other potential genetic or environmental factors contributing to atypical MND.
