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Mitochondrial energy production depends on a chain of five main complexes that when mutated could lead to severe energy deprivation and cell death. Recently, researchers at the Faculty of Medicine of Lund University, in Sweden, showed that delivering an agent that activates complex II in cells with mitochondrial complex I deficiency may rescue the…

Scientists at the University of Pennsylvania’s Perelman School of Medicine discovered that depletion of the mitochondrial factor NAD (nicotinamide adenine di-nucleotide) which helps maintain muscle function and endurance, ramps up muscle breakdown as mice age — a development that can be reversed by giving mice over-the-counter NAD-increasing supplements. Researchers now suggest…

A severe case of mitochondrial disease, caused by mutations in the FBXL4 gene, was confirmed by sequencing the coding parts of the genes of an infant born more than three months premature. The study, “Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations…

A team of researchers at NeuroVive Pharmaceuticals developed a new pharmacological strategy that could potentially be used to treat mitochondrial disease.

Patients with mitochondrial disorders may be more rapidly diagnosed with a new genetic test developed by researchers at the Wellcome Trust Center for Mitochondrial Research. The new test is described in the study “Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype,” published…

Unlike the nuclear genetic material that comes from both our father and mother, the mitochondrial genome is inherited exclusively from our mother. Researchers at the Fred Hutchinson Cancer Research Center have shown for the first time that this may lead to mutations in the mitochondrial DNA (mtDNA) that are harmful to a…

A team of scientists led by Dr. David Pagliarini, PhD, recently identified three new proteins that relate to mitochondrial disease while delving into the incomplete protein map of mitochondria. The team at University of Wisconsin-Madison published two papers in the journal Molecular Cell describing these proteins. Pagliarini, a UW-Madison associate…

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…

Leber’s hereditary optic neuropathy (LHON), a disease caused by mutations in the mitochondrial DNA, may be effectively treated with gene therapy, according to a prospective study developed at Tongji Hospital in China. The study, “Long-term outcomes of gene therapy for the treatment of Leber’s hereditary optic neuropathy,”…

Mitochondrial transplants may prevent or ease hypoxia-induced pulmonary hypertension, according to a study developed at Huazhong University of Science and Technology in China. The study, “Mitochondrial transplantation attenuates hypoxic pulmonary hypertension,” published in the journal Oncotarget, took advantage of the different mitochondrial responses to hypoxia (low oxygen levels) in…