News

Computed tomography (CT) and magnetic resonance imaging (MRI) provide relevant information about the symptoms and exercise capabilities of those suffering with mild-to-moderate chronic obstructive pulmonary disease (COPD), a finding that was recently published in the Radiology journal that could lead to new and better treatments for COPD patients. COPD, a progressive disease of the…

Boehringer Ingelheim recently announced regulatory authority approvals in the first European countries for its Spiolto Respimat (tiotropium/olodaterol) therapy. The drug is a maintenance bronchodilator treatment designed to ease symptoms in adult patients suffering from chronic obstructive pulmonary disease (COPD). Boehringer did not stipulate in its press release which European countries are…

Courtagen Life Sciences, Inc., released several new Next Generation Sequencing tests designed to evaluate people with epilepsy and mitochondrial disease. Mitochondrial diseases are inherited or chronic illness. They can occur either at birth or may develop later, and include problems with development and cognition. They may cause poor growth, lack of coordination, weakness, pain and seizures.

Results from a recent study published in the journal Cell provide a new potential therapeutic avenue for preventing the transgenerational transmission of human mitochondrial diseases caused by mutations in mtDNA, the DNA located in the mitochondria. Mitochondria are double-membrane cellular organelles of bacterial origin that play…

Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…

In a new study entitled “Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction,” researchers discovered a mutation in a mitochondrial ribosome that induces mitochondria dysfunction leading to heart hypertrophy and liver steatosis in mice. The study was published in the journal PLOS…

In a new study entitled “Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy,” authors report to have identified in two patients with isolated myopathy (a muscular disease characterized by deficient muscle fibers resulting in muscular weakness) two novel variants in the mitochondria DNA, specifically in…

Researchers at The Children’s Hospital of Philadelphia (CHOP) headed by Marni J. Falk, M.D., director and attending physician in the Mitochondrial-Genetic Disease Clinic, focused on a group of respiratory enzymes (called respiratory chain RC enzymes), which are essential for the production of energy. When disrupted (due to mitochondrial defects and mutations…

A currently-recruiting Phase 1 clinical trial will identify if stem cell transplants are a safe treatment option for the rare disease mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The study aims to recruit 12 patients with MNGIE and treat them with allogeneic hematopoetic stem cells collected from the bone marrow or blood…

Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. For example, Leigh syndrome is associated with over 30 gene mutations, making it difficult to use single-gene identification as a cost-effective means of pinpointing Leigh…