Mitochondrial Disease News and Research

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Hypoxia therapy shows promise for treating mitochondrial brain disorders

Oxygen isn't always a good thing. Of course, people-and most organisms-cannot live without it. But oxygen can also be quite toxic and lead to profound health consequences.

8 Jul 2026

Researchers map rare DHDDS disease mechanism using lab-grown mini brains

Variants in the DHDDS gene cause a severe neurodegenerative condition, characterized by tremors, seizures, coordination and learning difficulties, usually manifesting in early childhood. This Parkinson's-like condition is extremely rare, and until recently, parents were told that there was nothing that could be done to slow down its progression.

15 Jun 2026

Scientists create large library of mitochondrial DNA mutant models

Some of your most important life partners are the mitochondria that power all your cells. You and these little cellular powerhouses are in a 1.5-billion-year-old evolutionary relationship-but mitochondria brought some baggage.

6 Apr 2026

Viagra ingredient improves symptoms in patients with Leigh syndrome

Sildenafil – an active ingredient also marketed under the name of Viagra – improves symptoms in patients with Leigh syndrome.

11 Mar 2026

Low oxygen turns red blood cells into powerful glucose sinks

Scientists have long known that people living at high altitudes, where oxygen levels are low, have lower rates of diabetes than people living closer to sea level.

19 Feb 2026

Study offers a unified biological model to explain the causes of autism

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum disorder (ASD).

10 Dec 2025

New study links inherited mitochondrial DNA mutation to disrupted immune balance

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial disorders, which often lead to severe disability and death.

26 Nov 2025

Hydroxytyrosol from olives shows new promise as a brain-protective compound

This review highlights hydroxytyrosol's role as a neuroprotective agent, activating key pathways for mental and vascular health through olive-derived compounds.

29 Oct 2025

New data confirms efficacy of mitochondrial donation in preventing disease

The UK's pioneering licensed IVF technique to reduce the risk of mitochondrial diseases carried out in Newcastle has seen eight babies born, published research shows.

17 Jul 2025

Experimental treatment reverses paralysis in child with rare mitochondrial disease

The value of a recent biochemical discovery can be seen in the case of an 8-year-old boy. In August 2023 he was able to play typical sports, but by November he needed a wheelchair because of a rare disease that caused worsening paralysis.

9 Jul 2025

Scientists use base editing to repair mitochondrial DNA mutations

In a step toward treating mitochondrial diseases, researchers in the Netherlands have successfully edited harmful mutations in mitochondrial DNA using a genetic tool known as a base editor.

25 Jun 2025

New blood test speeds up diagnosis of rare childhood diseases

A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European Society of Human Genetics today (Monday).

25 May 2025

JAX study sheds light on infection vulnerability in patients with rare mitochondrial diseases

Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions.

21 May 2025

New gene editing tool enables precise control of mitochondrial mutation load

Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle weakness to stroke-like episodes.

3 May 2025

Characterizing the spectrum of mitochondrial DNA deletion disease syndromes

Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a spectrum of what were classically considered discrete mitochondrial DNA deletion disease syndromes.

21 Feb 2025

New drug mimics low-oxygen treatment for Leigh Syndrome

For the average person, living at high altitude-where oxygen is sparser than at sea level-can have health benefits ranging from lower rates of heart disease to increased endurance.

18 Feb 2025

Cannabidiol shown to extend lifespan and improve symptoms in Leigh syndrome models

A study led by the UAB Institut de Neurociències and published in the journal Nature Communications demonstrates in animal models how daily administration of cannabidiol (CBD), a substance obtained from the cannabis plant, extends lifespan and improves symptoms associated with Leigh syndrome.

6 Sep 2024

Metformin boosts appetite-suppressing metabolite, new study finds

Metformin treatment boosts levels of Lac-Phe, an appetite-suppressing metabolite, potentially offering new insights into its mechanism and opening doors for obesity treatments.

19 Mar 2024

New mechanism that regulates dietary lipid processing by the intestine revealed

The maintenance of a balanced lipid homeostasis is critical for our health. While consumption of excessive amounts of fatty foods contributes to metabolic diseases such as obesity and atherosclerosis, fat is an indispensable component of our diet.

20 Dec 2023

Jena scientist receives grant for research on mitochondrial and neurodegenerative disease treatments

Dr. Kanstantsin Siniuk, postdoctoral researcher in the project group of Dr. Helmut Pospiech at the Leibniz Institute on Aging - Fritz Lipmann Institute (FLI) Jena, has secured a 96,000 euro grant from the BMBF's GO-Bio initial program for his pioneering project on mitochondrial and neurodegenerative disease treatments.

12 Dec 2023