Author Archives: Jose Marques Lopes, PhD

The normal interaction between two key members of the same mitochondrial protein family is essential to maintain proper energy production and prevent oxidative damage associated with neurodegenerative diseases, Wayne State University researchers have found. The study titled “The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2):…

A potential oral treatment of mitochondrial myopathies called omaveloxolone (RTA 408) appears to improve the mitochondrial function of patients at an optimal dose of 160 mg, top-line data from a Phase 2 clinical trial shows. Data comes from the 12-week, dose-ranging Phase 2 MOTOR trial (NCT02255422), which assessed the…

A new U.K. study shows why mitochondrial disease can occur in previously healthy families. The research, “Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos,” appeared in the journal Nature Cell Biology. Mutations in the DNA of mitochondria (the cellular power plants) affect only…

The use of vitamins and other nutritional supplements to treat mitochondrial diseases needs to be scientifically validated, a study contends. The research, “Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems,” appeared in the journal Annual Review of Pathology: Mechanisms of Disease. Defects in mitochondria, the cells’ power plants, can…

Variations in mitochondria DNA, the cellular powerhouses responsible for energy production, could lead to the development of autism, a new study suggests. The study, “Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders,” was recently published in…

A new tool to help in the diagnosis and outcome prediction of mitochondrial disease has been created by researchers from the U.S. and Finland, according to a study. Findings from the study, “Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database,” appeared in the journal…