Mitochondrial Disease News and Research

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CHOP researchers explore effective nutritional therapies for mitochondrial disease

Defects in mitochondria, the tiny structures that power our cells by functioning as biological batteries, cause an array of complex, often life-threatening disorders that can affect any and all organs and systems.

10 Jan 2018

New set of guidelines released for managing and caring patients with mitochondrial disease

Physicians who see patients with mitochondrial disease now have a practical new tool--a set of guidelines for managing and caring for those patients.

25 Oct 2017

Legalizing mitochondrial donation can prevent children from inheriting life-threatening genetic disease

Australian laws need to change to allow women carrying mitochondrial disease to access a ground-breaking IVF procedure so they can have healthy, biologically-related children free from this incurable and life-threatening genetic disease, according to the Australian Mitochondrial Disease Foundation.

25 Sep 2017

Study provides better knowledge about healthcare burden of mitochondrial diseases

Mitochondrial diseases are a diverse group of disorders caused by mutated genes that impair energy production in a patient's cells, often with severe effects.

28 Jun 2017

Biochemists create new tool to help diagnose POLG disorders and predict outcomes

Providing answers -- or at least more information -- to the most difficult medical questions is the aim of medical scientists. And how research findings are translated and made available can be as important as the discoveries themselves.

24 May 2017

Pioneering IVF technique offers hope to families with inheritable mitochondrial disorders

Details of a pioneering IVF technique using mitochondrial replacement therapy (MRT) have been revealed, giving hope to those families with inheritable mitochondrial disorders that they may be able to have healthy children in the future.

3 Apr 2017

World's first licence for mitochondrial donation IVF may enable women to have disease-free babies

Eminent UK reproductive and genetics experts have become the first in the world licensed to provide a revolutionary IVF procedure using donor DNA – which they spent decades developing – enabling women carrying potentially fatal mitochondrial disease to have healthy, genetically-related babies.

20 Mar 2017

UK to officially authorise clinical use of ground-breaking ‘three-person baby IVF’

The United Kingdom will likely this week become the first country to officially authorise clinical use of ground-breaking mitochondrial donation IVF to enable healthy babies to be born to women carrying deadly mitochondrial disease, which starves major organs of energy.

16 Dec 2016

CHOP researchers exploit gene discovery in severe epilepsy to identify precision treatment

An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children.

20 Sep 2016

CFS possesses objectively identifiable chemical signature in men and women, study reveals

Dauer is the German word for persistence or long-lived. It is a type of stasis in the development in some invertebrates that is prompted by harsh environmental conditions. The findings are published online in the August 29 issue of PNAS.

29 Aug 2016

Novel innovation could help scientists study new treatments for mitochondrial diseases

A new study published in the Proceedings of the National Academy of Sciences from the University of Missouri has succeeded in creating embryos with "heteroplasmy," or the presence of both maternal and paternal mitochondrial DNA.

23 Aug 2016

Selfish mutant mtDNA exploits cellular defenses to cause many diseases

Mitochondrial disorders are a chameleon-like set of diseases that take many different forms and vary widely from individual to individual.

12 Jul 2016

New genetic test provides rapid diagnosis of mitochondrial disease

Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene.

7 Jul 2016

New IVF-based technique can reduce risk of mothers passing on mitochondrial disease to infants

A new IVF-based technique is likely to lead to normal pregnancies and reduce the risk that babies born will have mitochondrial disease, according to researchers at the Wellcome Trust Centre for Mitochondrial Disease at Newcastle University.

9 Jun 2016

U.S. panel endorses “three-parent” IVF technique

An expert committee have recommended that the U.S. government allows the clinical investigation of mitochondrial replacement techniques (MRT) to go ahead.

4 Feb 2016

Genetic mutation in starlings could shed light on mitochondrial disease in humans

Deakin University and UNSW Australia researchers have made a rare observation of rapid evolution in action in the wild, documenting the spread of a newly arisen genetic mutation in invasive starlings, which could shed light on mitochondrial disease in humans.

6 Jan 2016

Epilepsy common but variable in mitochondrial disease patients

Around a quarter of patients with mitochondrial diseases have seizures, but these do not appear to increase their risk of dying, report researchers.

27 Nov 2015

Scientists reveal link between depression and paraventricular thalamus

Scientists from the RIKEN Brain Science Institute have shown that a mouse strain with a mutation that leads to dysfunction of mitochondria--the "powerhouses" that provide energy to cells--spontaneously undergo periodic episodes of depression-like behavior that resemble those in human. Through this research, published in Molecular Psychiatry, the scientists uncovered a link between depression and the paraventricular thalamus, a region of the brain not previously tied to depression.

20 Oct 2015

New initiative aims to improve early detection, treatment of mitochondrial disease in Canada

The MitoCanada Foundation has announced a national research venture focused on improving the early detection and treatment of mitochondrial disease in Canada.

21 Sep 2015

New approach holds great promise for developing effective treatments for human mitochondrial diseases

Using existing drugs, such as lithium, to restore basic biological processes in human cells and animal models, researchers may have broken a long-standing logjam in devising effective treatments for human mitochondrial diseases.

21 Jul 2015