Aasander Frostner 2022 Abstract Bioblast
|8.1. «10+5» https://doi.org/10.26124/bec:2022-0001 |
Event: Bioblast 2022
Primary mitochondrial diseases are a heterogeneous group of rare genetic disorders affecting approximately 125 persons per million. Mutations underlying these diseases give rise to biological changes (including decrease in cellular energy production and increase in reactive oxygen species), leading to organ failure, and commonly early morbidity. Mitochondrial diseases often present in early childhood and lead to the development of severe symptoms, with severe fatigue and myopathy being some of the most prevalent and debilitating clinical signs.
There are currently no cures for mitochondrial diseases, nor any approved pharmaceutical treatments for multisystemic disorders.
Current drug development in mitochondrial diseases focuses mainly on modulation of oxidative stress, regulation of the expression of genes involved in metabolic pathways, modulation of coenzymes, induction of mitochondrial biogenesis, and energy replacement.
In this short review, we present the current landscape of mitochondrial disease drug development, focusing on small molecules in clinical trials conducted by industrial sponsors.
• Keywords: mitochondria, primary mitochondrial disease, genetic disorders, MELAS, myopathy
• O2k-Network Lab: SE Lund Elmer E
- Åsander Frostner E1,2, Simón Serrano S1,2, Chamkha I1,2, Donnelly E1, Elmér E1,2, Hansson MJ1,2
- Abliva AB, Medicon Village, 223 81 Lund, Sweden
- Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Lund, Sweden
List of abbreviations, terms and definitions - MitoPedia
Labels: MiParea: mt-Medicine, Pharmacology;toxicology Pathology: Inherited Stress:Mitochondrial disease Organism: Human