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Niacin, vitamin B3, can help to normalize muscle metabolism in people with mitochondrial myopathy, a study based on a small pilot trial in patients suggests. Titled, “Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy,” the study was published in the…
Researchers have reviewed the role of mitochondria in cardiac diseases, highlighting different aspects of these multifaceted organelles and pointing out key processes, that, if deregulated, can lead to heart disease. Heart muscle cells – or cardiomyocytes – rely heavily on mitochondria for their energy needs. Different mitochondrial processes that can be…
Mitochondrial myopathy is a collective term for diseases related to defective mitochondria in cells. In patients with mitochondrial myopathy, mitochondria are not able to undergo normal oxygen consumption and energy production due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA that affect the mitochondrial machinery of cells. Diseases appear most…
Irving, Texas-based Reata Pharmaceuticals has just announced the enrollment of the first patient in the company’s Phase II MOTOR clinical trial. This study will seek to determine the safety, tolerability and efficacy of Reata’s experimental RTA 408 Oral Capsules as a potential treatment for mitochondrial myopathies (MM). RTA-408 works to improve mitochondrial…
A study recently published in the journal Frontiers in Genetics reported on a case report of a man with a new mitochondrial disease associated with the desmin (DES) gene. The study is entitled “Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria…
Researchers at the University Hospital Münster and the Robert-Bosch-Krankenhaus in Germany recently revealed that patients with different mitochondrial myopathies can exhibit different disease related cardiac phenotypes. The study was recently published in the Journal of Cardiovascular Magnetic Resonance and is entitled “Characteristic…
Mitochondria consist of small structures having evolved from bacteria engulfed by cells. This bacterial origin explains why mitochondria has its own genetic material (mitochondrial DNA, mtDNA) distinct from the nuclear DNA (nDNA). Most mitochondrial genes were transferred to the nucleus over time, but mtDNA still codes for 13 different proteins. Though…
In a new study entitled “Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3,” an international team of researchers show that a vitamin B3 form, nicotinamide riboside, is an effective treatment against mitochondrial myopathy in adults, delaying disease progression. The study was published in the…
In a recent article published in Acta Neuropathologica Communications, a team of researchers from the University of California San Francisco reported a case of a patient with a rapid progressive adult onset scoliosis due to late-onset axial myopathy associated with multiple somatic mtDNA abnormalities but without chronic…
Researchers studied the prenatal diagnostic services provided in the UK for mitochondrial diseases since 2007. The study entitled “A national perspective on prenatal testing for mitochondrial disease” was published on 19 March, 2014 in the European Journal of Human Genetics. Mitochondrial diseases, including mitochondrial…
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