In the past, numerous articles related to disorders of mitochondrial cofactor metabolism have been published in Brain. These studies not only facilitated our understanding of the underlying biochemical defects, but also paved the way to specific treatment options. As a consequence our clinical view on mitochondrial diseases has changed substantially during the last years.
The umbrella term ‘mitochondrial disease’ comprises a large group of inherited metabolic disorders caused by dysfunction of the pyruvate oxidation route. Our common understanding of mitochondrial diseases mainly refers to classical mitochondrial syndromes such as Leigh syndrome or MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). However, the spectrum of mitochondrial diseases is much broader and the development of novel genetic tools has undeniably advanced our knowledge about this disease group. During the past 6 years more than 100 novel mitochondrial diseases have been identified via next generation sequencing (NGS) strategies leading to a total number of around 280 known disease genes, affecting diverse mitochondrial pathways. Accordingly, clinical management of affected individuals is challenging and diagnostic strategies are in flux.
Read the full article on BRAIN – Journal of Neurology (Oxford Academic)