Related Experiment Video

Updated: Apr 16, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

915

Emerging concepts in the therapy of mitochondrial disease

Carlo Viscomi1, Emanuela Bottani2, Massimo Zeviani1

  • 1Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology IRCCS, 20133 Milan, Italy; MRC-Mitochondrial Biology Unit, Cambridge CB2 0XY, UK.

Biochimica Et Biophysica Acta
|March 14, 2015
PubMed

Insights

Mitochondrial disorders, genetic conditions impairing energy production, have limited treatments. This review explores emerging experimental therapies showing promise for these debilitating diseases.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Mitochondrial disorders are genetic conditions affecting oxidative phosphorylation.
  • These disorders present with diverse symptoms, impacting quality of life and lifespan.
  • Despite advances in understanding genetic and biochemical causes, effective treatments remain limited.

Purpose of the Study:

  • To review the current landscape of experimental therapies for mitochondrial disorders.
  • To highlight emerging therapeutic strategies and their pre-clinical findings.

Main Methods:

  • Literature review of recent research on mitochondrial disorder therapies.
  • Analysis of pre-clinical data for emerging therapeutic approaches.

Main Results:

  • Current treatments are primarily supportive, managing complications.
  • New therapeutic strategies are showing promise at the pre-clinical level.
  • Significant progress in understanding disease mechanisms has not yet translated to broad clinical success.

Conclusions:

  • Experimental therapies offer new hope for mitochondrial disorders.
  • Further research is needed to translate pre-clinical promise into clinical efficacy.
  • The review provides an overview of the state-of-the-art in experimental mitochondrial disease treatment.
Keywords:
Animal modelExperimental therapyMitochondrial diseaseMitochondrial respiratory chainMitochondrionOxidative phosphorilation

More Related Videos

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy07:47

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Published on: July 9, 2016

14.8K
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model06:05

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

4.6K

Related Concept Videos

Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
19.8K
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
18.0K
Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
21.6K
The Inner Mitochondrial Membrane01:28

The Inner Mitochondrial Membrane

The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria.  In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...
5.2K
Translocation of Proteins into the Mitochondria01:19

Translocation of Proteins into the Mitochondria

Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
13.8K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
10.2K