Author Archives: Alice Melão

More than one-fifth of patients who are carriers of the m.3243A>G mutation, one of the most common genetic variants linked to MELAS spectrum disorder, have a significantly higher fear of disease progression, a study shows. Recognizing this fear as a limiting psychological symptom with real implications in a person’s…

A natural RNA surveillance mechanism is crucial to maintain the integrity of mitochondria’s encoded information for protein production and prevent the accumulation of potential disease-causing molecules. The study, “Human mitochondrial degradosome prevents harmful mitochondrial R loops and mitochondrial genome instability,” was published in the journal Proceedings…

New mutations affecting the NDUFA6 gene were identified as the cause of early-onset severe mitochondrial disorder in four unrelated children, a report shows. The study, “Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency,” is the first report implicating this gene in…

Jotrol, Jupiter Orphan Therapeutics’ lead therapeutic candidate, was found to markedly improve mitochondria production in the liver and brain of mice with Alzheimer’s disease, according to preclinical data. These recent results further demonstrate the potential of the investigational therapy to modify mitochondria stability and function, without major toxicity effects.

The Mito Foundation and The Lily Foundation are joining efforts to support the development of a nucleoside therapy to treat mitochondrial depletion syndromes. This announcement from the two patients groups comes almost one year after the death of U.K. baby Charlie Gard due to a form of mitochondrial…

A new mutation identified in the SLC25A4 gene has been linked to childhood-onset mild myopathy (muscle disease) in a case study from the Children’s Hospital of Philadelphia (CHOP). The finding was published in a report titled, “Expanding the phenotype of de novo SLC25A4-linked mitochondrial…

Analysis of a cerebrospinal fluid protein called neurofilament light (NfL), which is linked to nerve cell damage, can help monitor the neurodegenerative process in patients with mitochondrial diseases. This finding resulted from the study “Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patients,” which…

Stealth BioTherapeutics announced that it has raised $100 million from investors to support the development of elamipretide and other compounds that might treat diseases involving mitochondria dysfunction. “We are gratified by the support from these leading healthcare and venture capital investors,” Reenie McCarthy, CEO of Stealth, said in a…

New genetic mutations affecting the MRPS2 gene were identified as the cause of mitochondrial disorder in two unrelated children, a case report shows. The study, “Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies,” is the first…

Mitochondrial DNA can react with certain chemicals in the body to produce compounds that trigger genetic mutations — and the mutations can lead to mitochondrial disease, a study reports. The research at the Vanderbilt University School of Medicine dealt with mitochondrial DNA’s interaction with oxygen-containing chemicals called reactive oxygen species. Mitochondria…