Author Archives: Ines Martins, PhD

Mutations in a mitochondrial protein involved in the synthesis of certain essential amino acids may lead to severe hind limb function, reduced brain weight, and infertility, according to an animal study developed at the The Johns Hopkins University School of Medicine. The study, “A Spontaneous Missense Mutation…

Researchers from New Zealand have shown for the first time that mitochondrial DNA (mtDNA) can leave the mitochondria, travel to the nucleus, and establish interactions with specific genes. Findings from the study “Interactions between mitochondrial and nuclear DNA in mammalian cells are non-random,” published in the journal Mitchondrion, may provide…

Researchers at the University of Missouri have successfully created embryos with maternal and paternal mitochondrial DNA (mtDNA), a feature called heteroplasmy that is thought to occur in a number of mitochondrial diseases. Their study, “Autophagy and ubiquitin–proteasome system contribute to sperm mitophagy after mammalian fertilization,” published in…

Researchers at the Zhejiang University, in China, have shown that mutations in a specific mitochondrial transfer RNA (tRNA), a type of RNA that helps decode a messenger RNA (mRNA) sequence into a protein, may lead to impaired mitochondrial protein synthesis, resulting in lower energy production and greater oxidative stress. The study, “…

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…

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…

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…

A new nanoblade can open a cell’s membrane to insert mitochondria directly into the cytoplasm, allowing for scientists to manipulate mitochondria outside the cell before returning them. The technique, described in the study “Mitochondrial Transfer by Photothermal Nanoblade Restores Metabolite Profile in Mammalian Cells,” may have implications for therapeutic…