Author Archives: Joana Fernandes, PhD

GenSight Biologics’ GS010 gene therapy restored some of the vision in Leber’s Hereditary Optic Neuropathy (LHON) patients whose sight had deteriorated, according to a Phase 1/2 clinical trial. The findings were from a 96-week trial (NCT02064569) assessing the long-term effectiveness and safety of GS010. LHON is a rare mitochondrial disease…

Uremia (increased blood urea levels) may promote inflammation in the adipose tissue (fat) and faulty mitochondrial activity in the muscle, which can contribute to the development of end-stage renal disease, new research indicates. The study, titled “Uremia induces adipose tissue inflammation and muscle mitochondrial dysfunction,” was published in the journal…

Low levels of oxygen, or hypoxia, may prevent and even reverse brain lesions associated with Leigh syndrome, a mitochondrial disease. The study, “Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome,” appeared in the journal PNAS. Leigh syndrome is a rare genetic disorder linked to mutations…

Iranian doctors have shared the case of a 14-year-old girl who developed and died of Leigh syndrome (LS) after suffering a head trauma in school. Their study, “Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: A Case Report,” appeared in the journal Emergency. LS, a rare genetic disorder associated…

Researchers have conducted a thorough review that highlights several heart diseases associated with mitochondrial disease (MD), as well as the clinical features of cardiac MD and current therapies to manage the condition. The study, “Mitochondrial Disease And The Heart” and published in the journal Heart , was conducted…

Mutations in a protein called Tmem135 leads to disrupted mitochondrial activity and accelerates the progression of visual deficiencies, according to a new study. The paper, “Mouse Tmem135 Mutation Reveals A Mechanism Involving Mitochondrial Dynamics Leading To Age-Dependent Retinal Pathologies,” was published in the journal eLife. “Age-related macular degeneration…

Mitochondria present in cells of the inner intestinal wall control the renewal of this organ’s surface and may contribute to the development of gut diseases, according to a new study published in the journal Nature Communications. The study, “Mitochondrial Function Controls Intestinal Epithelial Stemness And Proliferation,” was conducted by a…

Researchers have found a novel mutation in the mitochondrial gene MT-TL2 in two siblings with Leigh syndrome, according to a new study published in the journal Neurology Genetics. Leigh syndrome, usually apparent in babies before age 1, is a rare genetic neurometabolic disorder associated with mutations in mitochondrial and…

A recent review highlights the latest findings in mitochondrial disease and the importance of distinguishing between primary mitochondrial disease (PMD) and secondary mitochondrial disease (SMD) in the diagnosis of patients, as treatments and outcome may be very different for these two cases. The study, “Primary Mitochondrial Disease and Secondary Mitochondrial…

A recent study added new mutations to the short list of mutations identified within the MT-PT gene, which are known to cause mitochondrial myopathy. The study, led by Steven Hardy, PhD, from Newcastle University in England, is titled “Pathogenic mtDna Mutations Causing Mitochondrial Myopathy: The Need For Muscle Biopsy,” and…