News

Clinical trials in Britain and the United States will investigate whether a ChromaDex therapy can alleviate mitochondria disease and improve a heart condition linked to mitochondrial dysfunction. A University of Cambridge-led team will look at whether the therapy, Niagen (nicotinamide riboside), can help mitochondrial disease patients by increasing the amount of energy-generating mitrochondria…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Mutations in the SLC39A8 gene contribute to mitochondria impairments seen in Leigh syndrome by reducing the levels of manganese, a key element that protects against oxidative stress, researchers found. The study, “Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders,” was published in…

Mutations in genes involved in the production of mitochondrial proteins may affect the heart and brain severely during early development and lead to a poor prognosis, researchers have found. That finding is in the study “Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease,”…

Researchers used next-generation sequencing to identify NDUFB8 as a relevant gene in childhood-onset mitochondrial disease, a new study shows. The study, “NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy,” was published in the American Journal of Human Genetics. Respiratory chain complex I, one of the largest…

Researchers are suggesting that genetic variants of the PARS2 gene are responsible for an entirely new mitochondrial disease, one with distinctive clinical and molecular patterns. Their findings were reported in  “Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations,” published in the…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

The accumulation of the stress-responsive heat shock protein 90 (HSP90) in the mitochondria of certain lung cells is a hallmark of pulmonary arterial hypertension (PAH), and inhibiting HSP90 reversed PH in two rat models of the disease, according to researchers. The study, “Mitochondrial HSP90 Accumulation Promotes Vascular Remodeling…

NeuroVive Pharmaceutical AB’s investigative compound NV556 holds therapeutic potential for the treatment of mitochondrial myopathy, according to recent data of a preclinical study. Conducted in collaboration with researchers at Karolinska Instutet in Stockholm, Sweden, the study showed that treatment with NV556 could…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…