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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…
HotSpot Therapeutics has secured $45 million to advance its drug discovery strategy that identifies so-called “hot spots” in proteins, allowing for their precise targeted regulation. Using this technology, HotSpot Therapeutics has identified hot spots in more than 100 proteins important for many diseases, including mitochondrial diseases. “HotSpot is targeting…
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…
BridgeBio Pharma has entered into an exclusive licensing agreement with NeuroVive Pharmaceutical AB for the development of a subset of chemical compounds under NeuroVive’s NVP015 program. The goal is to further develop therapeutic solutions for mitochondrial diseases. BridgeBio also launched Fortify Therapeutics, a subsidiary that will work on the…
A mathematical model that can predict the nature of the mitochondrial DNA a child will inherit from its mother was part of a study that also found that maternal age counts in mitochondrial health, too. This part of the study, in mice, showed that the older the mother, the higher…
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…
Mutations in the mitochondrial gene ANT1 may increase the risk of bipolar disease by altering levels of serotonin transmission in the brain, a mouse study suggests. The study, “Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder,” was published in the journal Molecular Psychiatry. Previous studies have shown…
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…
As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…
Two surveys of people with mitochondrial disease spotlighted factors that both motivate and hinder patients from taking part in clinical trials, and underscored the importance of working with patient advocacy groups to educate patients on the value of such trials and encourage participation, a study based on survey results states.
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