The Pathomechanism of Mitochondrial Diseases
A topical collection in Cells (ISSN 2073-4409). This collection belongs to the section "Mitochondria".
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Interests: pathomechanism of inborn errors of metabolism and mitochondrial diseases; mitochondrial respiratory chain function in health and disease
Topical Collection Information
Dear Colleagues,
Mitochondrial diseases are a heterogenous group of common inborn errors of metabolism, originating from pathogenic variants in the mitochondrial or nuclear genome, resulting in respiratory chain deficiency, mostly with devastating consequences. Moreover, mitochondrial dysfunction is associated with numerous other pathological conditions, including neurodegenerative diseases, diabetes, cancer, immune dysfunction, and heart and kidney diseases.
Although next-generation sequencing (NGS) techniques are a game changer in the diagnosis of mitochondrial diseases, they have not signtificantly resulted in providing better treatment options, which are presently very limited. Studying the patomechanistic aspects (cell biology and physiology, molecular biology, and biophysics) of the individual diseases in cellular and animal models is a vital step towards developing more effective treatments.
The aim of this Topical Collection is to broaden knowledge and understanding of the various pathomechanisms involving mitochondrial dysfuction in disease, including evaluating the effect of small molecules and other treatments in model systems.
Prof. Ann Saada
Collection Editor
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Keywords
- mitochondrial diseases
- mitochondrial dysfunction
- mitochondrial respiratory chain
- mitochondrial DNA
- pathomechanism
- treatment