Mitochondrial Disease News and Research

RSS

Optimized protocol to prevent disease transmission through maternal mitochondrial DNA carryover

Researchers discuss a novel technique to minimize the risk of mtDNA carryover, thereby preventing genetic risk and clinical mitochondrial disease.

5 Oct 2023

Unlocking hope for mitochondrial disorders with INTEGRA Biosciences’ electronic pipette

INTEGRA Biosciences’ VOYAGER adjustable tip spacing pipette to support their research on mitochondrial diseases.

From INTEGRA Biosciences 2 Oct 2023

University of Arkansas receives $3.1 million NIH award to study pediatric mitochondrial disorders

The Eunice Kennedy Shriver National Institute of Child Health and Human Development awarded $3.1 million to the University of Arkansas to study a spectrum of pediatric mitochondrial disorders caused by mutations in the mitochondria.

20 Sep 2023

Tiny amounts of hydrogen sulfide could help people live healthier for longer

Future therapies to help people live healthy lives for longer could be developed from drugs that release tiny amounts of the gas hydrogen sulfide (H2S), new research has indicated.

31 Jul 2023

Children with mitochondrial disorders have weaker antibody response to viral infections, study finds

In a new study, National Institutes of Health (NIH) researchers found that altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response to viral infections.

7 Jul 2023

Cure Mito Foundation releases the first-of-its-kind online resource about Leigh syndrome

The Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, has launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease.

5 Jun 2023

Efficient assay system aids rapid genetic diagnosis of mitochondrial diseases

The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and fatty acid metabolism.

18 May 2023

Finnish mitochondrial disease of newborns shows cancer-like changes in proliferating cells

A study found that a mitochondrial disease of newborns shows cancer-like changes in proliferating cells, causing tissues to age prematurely.

3 May 2023

Two new zebrafish models for studying the most common cause of Leigh syndrome developed

Researchers from Children's Hospital of Philadelphia (CHOP) developed two new zebrafish models for studying a specific genetic form of mitochondrial disease that represents the most common cause of Leigh syndrome.

21 Feb 2023

Discovery offers an avenue for development of novel therapies for Chagas disease

Chagas disease, caused by the protozoan parasite Trypanosoma cruzi, affects some 8 million people worldwide. More than a third develop severe heart or digestive problems with a heightened risk of death.

5 Dec 2022

Personalized whole genome sequencing approach could double the diagnostic rates of rare diseases

Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.

7 Nov 2022

Researchers identify a previously unknown mitochondrial disease in identical twins

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.

14 Oct 2022

NIH researchers develop three-dimensional structure of twinkle protein

Researchers from the National Institutes of Health have developed a three-dimensional structure that allows them to see how and where disease mutations on the twinkle protein can lead to mitochondrial diseases.

5 Aug 2022

Study finds microglia to be responsible for neuronal death in a mitochondrial disease animal model

Microglia, a type of central nervous system cell, is primarily responsible for neuronal death in Leigh Syndrome and the neurological symptoms related to this mitochondrial disease.

8 Jul 2022

Benefits of endurance exercise in primary mitochondrial disease depend on the underlying mutation

Mitochondria serve as the main source of energy production in our cells, and endurance exercise is generally known to improve the function of mitochondria.

4 May 2022

Developmental delays related to Leigh syndrome may occur earlier than previously known

Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia have found that developmental delays associated with Leigh syndrome, the most common pediatric mitochondrial disorder, may occur earlier than previously recognized – even before metabolic stroke and regression – which could provide clinicians with an opportunity for earlier diagnosis and therapeutic interventions.

1 Mar 2022

Defective mitochondrial DNA could be modified using gene-editing techniques

Defective mitochondria – the 'batteries' that power the cells of our bodies – could in future be repaired using gene-editing techniques.

8 Feb 2022

Scientists elucidate the structure of protein complex essential for proper functioning of cells

Scientists at IST Austria describe for the first time the structure of a protein complex essential for our cells to function properly.

7 Oct 2021

CHOP researchers develop tool to monitor disease severity in patients with mitochondrial myopathy

Researchers at Children's Hospital of Philadelphia successfully developed and validated a new outcome measure to monitor disease severity and progression in patients with impaired skeletal muscle function caused by mitochondrial disease.

1 Sep 2021

New live cell models lay the groundwork for studies into mitochondrial diseases

The mitochondrion has garnered quite the reputation for its role as the "powerhouse of the cell." These tiny, but mighty organelles play various life-sustaining roles, from powering our own cells and organs to fueling chemical and biological processes.

15 Jul 2021