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    April 24, 2015April 24, 2015

    Researchers Reduce Mutated Mitochondrial Genomes Implicated in Mitochondrial Diseases

    News
    Results from a recent study published in the journal Cell provide a new potential therapeutic avenue for preventing the transgenerational transmission of human mitochondrial diseases caused by mutations in mtDNA, ... Read more
    April 23, 2015April 23, 2015

    CHOP Researchers Restore Cellular Energy Signals, Offering Possibility of Treating Mitochondrial Diseases

    News
    Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism ... Read more
    April 21, 2015April 21, 2015

    Researchers Discover Mitochondrial Mutation That Leads to Fatty Liver Disease

    News
    In a new study entitled “Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction,” researchers discovered a mutation in a mitochondrial ribosome that induces mitochondria dysfunction leading to heart ... Read more
    April 20, 2015April 20, 2015

    Two New Mutations in Mitochondria DNA Associated with Isolated Myopathy

    News
    In a new study entitled “Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy,” authors report to have identified in two patients with isolated myopathy (a muscular disease characterized ... Read more
    April 17, 2015April 26, 2015

    Researchers Discover That For Mitochondrial Diseases, The Problem Lies Within

    News
    Researchers at The Children’s Hospital of Philadelphia (CHOP) headed by Marni J. Falk, M.D., director and attending physician in the Mitochondrial-Genetic Disease Clinic, focused on a group of respiratory enzymes ... Read more
    April 16, 2015April 18, 2015

    Stem Cell Transplant Studied in MNGIE

    Myoneurogenic gastrointestinal encephalopathy
    A currently-recruiting Phase 1 clinical trial will identify if stem cell transplants are a safe treatment option for the rare disease mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The study aims to ... Read more
    April 9, 2015April 9, 2015

    Whole Exome Sequencing Useful to Diagnose Leigh Syndrome

    Leigh syndrome
    Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. For example, Leigh syndrome is associated ... Read more
    April 6, 2015April 6, 2015

    Peptide-Mediated Mitochondrial Delivery for MERRF Treatment Outlined in New Study

    Myoclonic Epilepsy with Ragged Red Fibers
    If myoclonic epilepsy with ragged red fibers (MERRF) syndrome is caused by at least one of four point mutations in mitochondrial DNA, then curing the disease should be as easy ... Read more
    March 31, 2015March 31, 2015

    Study Identifies New Mutations of Mitochondrial Disorders Associated with CoQ10 Deficiency

    News
    A collaborative team of German and Italian researchers from the Institute of Human Genetics (Neuherberg) and the Istituto di Ricovero e Cura a Carettere Scientifico (Milan) identified mutations in the ... Read more
    March 30, 2015March 30, 2015

    Study Investigates Simple Diagnosis for Cytochrome c Oxidase Deficiency

    Leigh syndrome
    Children with mitochondrial disorders most commonly are deficient in cytochrome c oxidase (CIV), a protein involved in the electron transport chain the membrane of the mitochondria. The gold standard way ... Read more
    March 26, 2015March 26, 2015

    Peripheral Neuropathy May Indicate Mitochondrial Myopathy

    Progressive external ophthalmoplegia
    A simple blood or urine test, rather than an invasive muscle biopsy, may be all that is needed to diagnose mitochondrial disease in patients with peripheral neuropathy (muscle weakness or ... Read more
    March 23, 2015March 23, 2015

    Raptor Pharmaceuticals’ Experimental Therapy in Phase 2 / 3 Trial for Leigh Syndrome

    Kearns-Sayre syndrome, Leigh syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia
    Raptor Pharmaceuticals Inc. is looking to bring relief to a wide variety of young patients with inherited mitochondrial disease through its therapeutic called RP103 (cysteamine bitartrate delayed-release capsules). A Phase ... Read more
    March 18, 2015March 20, 2015

    Cutting-edge Imaging Techniques Reveal New mtDNA Control Processes That May Be Involved In Mitochondrial Diseases

    Mitochondrial Myopathy News, News
    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 ... Read more
    March 17, 2015March 17, 2015

    Vitamin B3 Found to Rescue Mitochondria Defects in Adults with Mitochondrial Myopathy

    Mitochondrial Myopathy News, News
    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 ... Read more
    March 12, 2015March 16, 2015

    Case Report Explores Mitochondrial Myopathy with Rapidly Progressive Adult-onset Scoliosis

    Mitochondrial Myopathy News, News
    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 ... Read more
    March 11, 2015March 11, 2015

    Early Folinic Acid Supplementation Improves Symptoms of Kearns-Sayre Syndrome

    Kearns-Sayre syndrome
    If patients with Kearns-Sayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. A team from Spain tested this theory in the article ... Read more
    March 10, 2015March 10, 2015

    Prenatal Diagnostic Testing for Mitochondrial Diseases May Help Future Parents, UK Study Shows

    Mitochondrial Myopathy News, News
    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 ... Read more
    March 9, 2015March 9, 2015

    Reata Announces Enrollment of First Patient in Phase 2 Study of RTA 408 for the Treatment of Friedreich’s Ataxia

    Friedreich's Ataxia, News
    Irving, Texas based Reata Pharmaceuticals, whose mission is to translate innovative research into breakthrough medicines for difficult-to-treat diseases that have significant unmet needs, recently announced the enrollment of their first patient ... Read more
    March 4, 2015March 20, 2015

    Brain and Muscle Disorders may be Caused by a Dysfunctional Mitochondrial Calcium Channel

    News
    A collaboration between researchers from Leeds’ St. James’s University Hospital, University College London (UCL) and the Institute of Child Health (UCL) identified a gene mutation affecting mitochondrial calcium (Ca2+) levels ... Read more
    March 2, 2015March 2, 2015

    Procedure Corrects Kearns-Sayre Syndrome Eyelid Drooping

    Kearns-Sayre syndrome
    Chronic progressive external ophthalmoplegia (CPEO) is the most common characteristic of Kearns-Sayre syndrome, which is one member of the family of mitochondrial myopathies. Patients with CPEO may benefit from bilateral ... Read more

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