Author Archives: admin

Baby Charlie’s Family Pleading With Courts to Save His Life

Parents in the U.K. are fighting for the right to take their 18-month-old son, who suffers from Mitochondrial disease, to the U.S. for an experimental treatment. Despite raising the £1.2 million needed to take the toddler overseas, the boy’s medical team has advised against it, saying there is “no real…

Therapy Shows Improved Vision in Rare Mitochondrial Disease, Follow-up Results Show

  Patients with Leber’s hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that leads to vision loss, show sustained improvement in a follow-up to a Phase 1/2 clinical trial with GenSight Biologics’ therapy candidate GS010. Patients recruited to the study had been diagnosed with LHON for approximately six years.

Case Study Describes Heart Problems in MELAS Syndrome

Heart arrhythmia could be a common medical condition occurring in people with MELAS syndrome, according to a recent case study report from researchers in Arkansas, Ohio and Texas. The recently published report, titled “Arrhythmia as a cardiac manifestation in MELAS syndrome” appeared in the journal Molecular Genetics and…

Mitochondrial Calcium Uniporter Described for First Time by Researchers

Researchers in Shanghai and the U.S. have unveiled a new cellular structure — the mitochondrial calcium uniporter (MCU), which supports cellular energy production  — using two lab techniques, nuclear magnetic resonance and electron microscopy (EM). The study,  “Architecture of the Mitochondrial Calcium Uniporter,“ appeared in the journal Nature. Mitochondria…

Human Mitochondrial Diseases and What Birds Can Tell Us About Them

Australian scientists from Deakin University and the University of New South Wales Australia found a rare genetic mutation in wild starlings that could help them understand mitochondrial disease in humans. The finding may also help shed light on how human populations respond and adapt to changes in the environment. The report,…

Mitochondrial Treatment Seen to Lower Anxiety in Mice

One-third of patients with anxiety disorders do not respond to currently available treatments, but researchers may have found a new way to help. Scientists at the Max Planck Institute of Psychiatry in Munich, Germany, reported that targeting the mitochondria appears to increase the effectiveness of anxiolytic treatments. Their report, titled…

Mitochondrial Defects Seen in Quarter of Progressive Cerebellar Ataxia Patients

Cerebellar ataxia could be caused by problems with the mitochondria in about a quarter of all people with the disease, according to a new study. Researchers from Newcastle University and the Royal Hallamshire Hospital of Sheffield in the United Kingdom used muscle biopsies to identify mitochondrial mutations as a cause of the ataxia.