mutations

January 18, 2019January 18, 2019

Genetic Mutations Affecting Protein Production Identified in Mitochondrial Disease

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Mutations in an enzyme complex essential for mitochondrial protein production are a newly found cause of mitochondrial disease, researchers found. The study, “Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause ... Read more

March 26, 2018March 26, 2018

Gene Mutation Leads to Early Childhood Neurodegenerative Disorder, Researchers Find

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Researchers found that inherited mutations in the PMPCB gene lead to a wide range of impairments in mitochondria and cause a form of early childhood neurodegenerative disorder in members of ... Read more

February 19, 2018

Manganese Deficiency Underlies Mitochondria Defects in Leigh Syndrome, Other Diseases, Study Finds

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Mutations in the SLC39A8 gene contribute to mitochondria impairments seen in Leigh syndrome by reducing the levels of manganese, a key element that protects against oxidative stress, researchers found. ... Read more

December 22, 2017December 22, 2017

Genetic Background Influences Number of Mitochondrial Disease-Causing Mutations in Groups of People, Study Says

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The rate of disease-causing mutations in mitochondrial DNA depends on the ethnic background and age of a specific population, researchers report. Disease-causing mutations were lower in European populations and ... Read more

August 21, 2017August 21, 2017

Blood Test Unveils Mutations Underlying Unknown Mitochondrial Diseases, Australian Study Finds

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Researchers at Australia’s University of Sydney have developed a blood test capable of identifying mutations in mitochondrial genes. This new test allows a faster diagnosis of rare and often undiagnosed mitochondrial diseases ... Read more

March 22, 2017March 22, 2017

Researchers Review Movement Disorders Associated with Mitochondrial Diseases

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Movement disorders are common among patients with mitochondrial diseases (MIDs). From mild tremors to severe involuntary movements, a broad spectrum of symptoms can be indicative of mitochondrial disease and ... Read more

November 18, 2016

Researchers Look for Links Between Mitochondrial Disease and Heart Diseases

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Researchers have conducted a thorough review that highlights several heart diseases associated with mitochondrial disease (MD), as well as the clinical features of cardiac MD and current therapies to ... Read more

October 12, 2016October 12, 2016

Novel Mitochondrial Gene Mutation Found in Siblings with Leigh Syndrome

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Researchers have found a novel mutation in the mitochondrial gene MT-TL2 in two siblings with Leigh syndrome, according to a new study published in the journal Neurology Genetics. Leigh syndrome, usually ... Read more

August 29, 2016August 29, 2016

Researchers Identify Three Novel Mutations in Mitochondrial Myopathy Patients

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A recent study added new mutations to the short list of mutations identified within the MT-PT gene, which are known to cause mitochondrial myopathy. The study, led by Steven Hardy, PhD, from ... Read more

August 26, 2016August 26, 2016

Study Shows Mitochondrial DNA, Nuclear Gene Interaction May Provide Clues to Mitochondrial Diseases

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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 ... Read more

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