Articles Tagged With: mitochondrial
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Gene and Substrate Therapy for Neurogenetic Disease: A Combined Approach to Treat Mitochondrial Myopathy
A combined adenoviral-mediated gene therapy plus substrate therapy delivered to a mouse model of thymidine kinase 2 (TK2) deficiency, manifested most often as a fatal mitochondrial myopathy in infants and children, rescued TK2 activity and prolonged animal lifespan, thus indicating a promising therapeutic approach for affected patients.
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Prevalence and Progression of Epilepsy in Adults with Mitochondrial Disease
In a prospective study of 182 consecutive patients at a specialized mitochondrial clinic in the United Kingdom, followed for more than 7 years, recording the initial prevalence of epilepsy, and subsequently tracking occurrences of new seizure activity, status epilepticus, stroke-like episodes, and death during the follow-up period, epilepsy was found to be a common feature of these disorders.
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Diagnosing POLG-related Diseases
Mutations of the polymerase-gamma subunit in mitochondrial DNA is a common cause of adult mitochondrial syndromes, such as myopathies, encephalopathies, epilepsy, and ataxias.