Mitochondrial Disease News and Research

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Existing drug for rare kidney disease could benefit patients with mitochondrial disorders

New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders--complex conditions with severe energy deficiency for which no proven effective treatments exist.

27 Feb 2019

Salk team uses new model to study health effects of AMP-activated protein kinase

The metabolic protein AMPK has been described as a kind of magic bullet for health. Studies in animal models have shown that compounds that activate the protein have health-promoting effects to reverse diabetes, improve cardiovascular health, treat mitochondrial disease--even extend life span.

16 Jan 2019

Study: Mice lacking PARL protein display specific problems in the nervous system reminiscent of Leigh syndrome

Leuven researchers led by professor Bart De Strooper (VIB-KU Leuven) have identified a new role for PARL, a protein that has been linked to Parkinson's disease.

3 Jan 2019

Experimental gene therapy extends lifespan of mice suffering from untreatable mitochondrial disease

Researchers at the University of Helsinki and Folkhälsan Research Center have, together with their collaborators, for the first time demonstrated in a mouse model that partial restoration of respiratory chain function in mitochondria, which serve as cellular power plants, may be sufficient to entirely prevent symptoms of a severe mitochondrial disorder.

20 Dec 2018

Participation project calls for relaxing research ban on germline interventions

Are genetic defects allowed to be repaired by intervening with sperm or egg cells, or even human embryos? Thanks to genetic scissors such as CRISPR/Cas, such interventions in the germline could soon become a medical reality.

19 Nov 2018

Research team identifies Ashkenazi Jewish founder mutation for Leigh syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy.

15 Nov 2018

Previously unknown genetic causes of mitochondrial diseases identified

An international team of scientists led by researchers from the University of Colorado School of Medicine have identified previously unknown genetic causes of mitochondrial diseases.

3 Oct 2018

Gene therapy approach could help treat mitochondrial diseases

Researchers have developed a genome-editing tool for the potential treatment of mitochondrial diseases: serious and often fatal conditions which affect 1 in 5,000 people.

24 Sep 2018

Metabolic dysfunction drives chronic illness

Much of modern Western medicine is based upon the treatment of acute, immediate harm, from physical injury to infections, from broken bones and the common cold to heart and asthma attacks.

7 Sep 2018

New discovery may lead to targeted treatment for copper metabolism disorders

Individuals with defects in copper metabolism may soon have more targeted treatment options thanks to a discovery by a research team led by Dr. Vishal Gohil of Texas A&M AgriLife Research in College Station.

31 Jul 2018

New study aims to develop nucleoside therapy as treatment for mitochondrial depletion syndromes

Hundreds of types of mitochondrial disease affect up to 38 million people worldwide, yet there are very few effective treatments, forcing patients and doctors to rely on symptom management to battle the serious and potentially fatal genetic disorder that starves the body’s cells of energy.

27 Jul 2018

Senate Committee recommends change in laws to prevent mitochondrial disease in Australian babies

Australian women at risk of having babies suffering severe mitochondrial disease may soon be able to have healthy children, following the Senate Community Affairs References Committee recommendation to move towards legalizing mitochondrial donation, a ground-breaking IVF technique that replaces energy-generating DNA in the mother’s egg with donor material.

6 Jul 2018

Genetic mutation shown to cause bipolar disorder

Researchers have discovered a mutation that may increase the risk of bipolar disorder through a complex interplay between serotonin and mitochondrial signaling.

11 Jun 2018

ANT1 mutations connect bipolar disorder with mitochondrial dysfunction

Mutations in the gene ANT1 may confer a risk for bipolar disorder through a complex interplay between serotonin and mitochondrial signaling in the brain.

11 Jun 2018

Study finds factors that help or hinder patient involvement in clinical trials of mitochondrial disease

As clinical trials gear up with the aim of attaining the first FDA-approved treatments for mitochondrial disease, a new study reports for the first time what patients and families say would motivate them for or against participating in such research trials.

7 Jun 2018

Researchers highlight the need to reconsider mitochondrial replacement moratorium

Mothers with mitochondrial DNA mutations often give birth to children who face incurable and fatal illnesses. But a much-studied form of mitochondrial replacement could prevent the transmission of such diseases from mothers to children, researchers say.

28 Mar 2018

Researchers determine cause of difficult-to-control mitochondrial diseases

A Japanese research group has discovered that taurine is conjugated with mitochondrial transfer RNAs (tRNAs), small RNAs that decode genetic information, and that taurine deficiency in tRNA dramatically reduces both mitochondrial protein translation and impairs mitochondrial membrane integrity.

7 Mar 2018