Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Towards a treatment for mitochondrial disease : current compounds in clinical development

Åsander Frostner, Eleonor LU orcid ; Simon Serrano, Sonia LU ; Chamkha, Imen LU ; Elmer, Eskil LU orcid ; Donnelly, Ellen and Hansson, Magnus LU orcid (2022) In Bioenergetics Communications 2022(4). p.1-10
Abstract
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
mitochondria, myopathy, MELAS, primary mitochondrial disease, genetic disorders
in
Bioenergetics Communications
volume
2022
issue
4
pages
1 - 10
ISSN
2791-4690
DOI
10.26124/bec:2022-0004
language
English
LU publication?
yes
id
c152fe73-8e9a-4a1c-975c-d92f817992be
date added to LUP
2022-08-05 15:30:00
date last changed
2023-05-15 09:33:28
@article{c152fe73-8e9a-4a1c-975c-d92f817992be,
  abstract     = {{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.<br/><br/>There are currently no cures for mitochondrial diseases, nor any approved pharmaceutical treatments for multisystemic disorders.<br/><br/>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.<br/><br/>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.}},
  author       = {{Åsander Frostner, Eleonor and Simon Serrano, Sonia and Chamkha, Imen and Elmer, Eskil and Donnelly, Ellen and Hansson, Magnus}},
  issn         = {{2791-4690}},
  keywords     = {{mitochondria; myopathy; MELAS; primary mitochondrial disease; genetic disorders}},
  language     = {{eng}},
  month        = {{06}},
  number       = {{4}},
  pages        = {{1--10}},
  series       = {{Bioenergetics Communications}},
  title        = {{Towards a treatment for mitochondrial disease : current compounds in clinical development}},
  url          = {{http://dx.doi.org/10.26124/bec:2022-0004}},
  doi          = {{10.26124/bec:2022-0004}},
  volume       = {{2022}},
  year         = {{2022}},
}