Author Archives: Patricia Inacio, PhD

Mitochondria-DNA mutations, whether single or triple, have the same negative impact on mitochondria function in Leber’s hereditary optic neuropathy (LHON) patients, according to a study titled “Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity” and published in the open access journal PLOS…

Canon BioMedical recently announced the addition of 72 new assays to the Novallele genotyping library, designed to allow researchers to more quickly identify single nucleotide polymorphisms (SNPs, the most common type of genetic variation among people) and other genetic modifications, like small insertions and deletions, in the human genome. The release includes two assays to detect…

Embryonic stem cells were reported to be a good model system for studying the impact of mutations leading to the mitochondrial disease Leigh syndrome. The study, “Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation,” was published in the Stem Cells and Development…

Researchers recently suggested that patients with the same mutation in their nuclear DNA exhibit multiple clinical phenotypes due to alterations in the mitochondrial DNA. The study, titled “A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease,” was published in PLOS One journal. Mutations in a single…

A preliminary study found that patients with a newly identified form of mitochondria disease, called mitochondrial myopathy with episodic hyper-creatine kinase (CK)-emia (MIMECK), were able to ease their symptoms through L-arginine therapy. The study, “Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine…

A team of researchers have designed a new method to determine, in a rapid and apparently accurate way, the morphology of mitochondria in cells using a microscope. Through this method, called Flicker-assisted Localization Microscopy (FaLM), researchers discovered that in vivo models of hypertension are characterized by larger mitochondria, occupying more of…

In a recent study, a team of scientists at the Stowers Institute for Medical Research discovered that a specific genetic locus in the DNA, Dlk1-Gtl2, plays a key role in protecting adult blood-forming stem cells, called adult hematopoietic stem cells, by inhibiting mitochondria’s metabolic activity. The study, entitled “…

A team of researchers recently investigated the therapeutic potential of salvianolic acid B in non-alcoholic steatohepatitis (NASH) disease. Their study, “Effects of salvianolic acid B on liver mitochondria of rats with nonalcoholic steatohepatitis,” was published in the World Journal of Gastroenterology. NASH is a type of nonalcoholic fatty liver diseases (NAFLD),…

In a new study entitled “A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome,” a team of scientists performed a metabolomics analysis of plasma and urine samples from patients with Leigh syndrome and found a distinct metabolic signature of mitochondrial dysfunction. The study was…

In a new study entitled “Defective Human Sperm Cells Are Associated with Mitochondrial Dysfunction and Oxidant Production” researchers investigated if dysfunctional mitochondria were associated with defective sperm, thereby contributing to male infertility. The team’s findings suggest that indeed, low motile sperm is associated with defective mitochondria and…