Posts by: Alice Melão

News

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 ... Read more

January 11, 2019January 11, 2019

Mitochondrial Surveillance Mechanism Is Critical for Genomic Stability, Study Shows

News

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 ... Read more

November 2, 2018November 2, 2018

New Mutations in NDUFA6 Gene Found in Four Cases of Mitochondrial Dysfunction

News

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 ... Read more

August 31, 2018August 31, 2018

Investigational Therapy Jotrol Shows Potential to Treat Mitochondrial Disorders, Mouse Study Suggests

News

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 ... Read more

August 17, 2018August 17, 2018

Patients Groups Funding Research Project Focused on Developing New Nucleoside Therapy

News

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 ... Read more

July 27, 2018July 27, 2018

SLC25A4 Gene Mutation Linked to Mild Mitochondrial Myopathy in Children, Case Study Shows

News

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 ... Read more

July 13, 2018July 13, 2018

Cerebrospinal Fluid Biomarker NfL Can Help Monitor Nerve Cell Degeneration, Study Says

News

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 ... Read more

June 22, 2018June 23, 2018

Stealth Raises $100M to Advance Elamipretide as Treatment for Mitochondrial Diseases

News

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 ... Read more

June 8, 2018June 8, 2018

Mutations in MRPS2 Gene Linked to Mitochondrial Dysfunction for First Time, Case Report Shows

News

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 ... Read more

March 21, 2018March 21, 2018

Mitochondrial DNA Reaction Can Lead to Mutations That Cause Disease, Study Reports

News

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. ... Read more