News

Researchers have found a novel mutation in the mitochondrial gene MT-TL2 in two siblings with Leigh syndrome, according to a new study published in the journal Neurology Genetics. Leigh syndrome, usually apparent in babies before age 1, is a rare genetic neurometabolic disorder associated with mutations in mitochondrial and…

Age indirectly influences mitochondrial function by reducing mitochondrial mass and worsens diet‐induced fat accumulation, according to a study conducted on mice. This may in turn increase the risk of developing non-alcoholic fatty liver disease (NAFLD).

The first baby with DNA from three people has been born, representing a novel step in in vitro fertilization procedures. The technique allows parents with a rare genetic mutation to have healthy babies, but has gained controversy because the newborn has the genetic material of two females and one male. The now 6-month…

A report from a past workshop promoted by the Office of Dietary Supplements (ODS), at the National Institutes of Health (NIH), and geared toward analyzing the use of nutritional interventions — including dietary supplements — in primary mitochondrial disorders (PMD) was recently published. The report, “Nutritional Interventions in Primary Mitochondrial Disorders: Developing…

The Howard Hughes Medical Institute (HHMI), the Simons Foundation and the Bill & Melinda Gates Foundation have given Cole Haynes, Ph.D., an associate professor of molecular, cell and cancer biology, an award for his work on mitochondria and aging. Cole HaynesPhoto: UMass…

A Finnish study of a modified Atkins diet, a popular high‐fat/low‐carbohydrate diet, in a small group of people with mitochondrial myopathy (MM) and progressive external ophthalmoplegia (PEO) found the diet induced progressive muscle pain and damage within two weeks, and the researchers suggest that patients using such diets to control disease symptoms be closely monitored.

Courtagen Life Sciences and Astellas Pharma announced a collaboration to use Courtagen’s molecular information platform to assist in the development of a predictive model to support early stage therapeutic development for mitochondrial disease. Under the terms of the agreement, Courtagen will use its ZiPhyr bioinformatics…

In a major effort to better understand the molecular workings of mitochondria, researchers discovered how 31 proteins contribute to mitochondrial functionality, identifying two additional factors that may be used to improve diagnostics of mitochondrial disease. So far, mutations in the genes coding for the two proteins have not been linked to mitochondrial…

A recent review highlights the latest findings in mitochondrial disease and the importance of distinguishing between primary mitochondrial disease (PMD) and secondary mitochondrial disease (SMD) in the diagnosis of patients, as treatments and outcome may be very different for these two cases. The study, “Primary Mitochondrial Disease and Secondary Mitochondrial…

Stealth BioTherapeutics has initiated an extension trial of its Phase 2 study evaluating elamipretide in patients with primary mitochondrial disease. The study, MMPOWER-2, will evaluate patients who completed the initial clinical trial. “Patients with rare primary mitochondrial diseases have no FDA-approved treatment options to address their needs,” Stealth CEO Reenie McCarthy…