CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish
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This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.
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This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.
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Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.
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While mitochondrial function recovered in the lungs, function did not recover in the heart and other organs, leading to long-term damage and a possible explanation for detrimental effects of “long COVID”.
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Translational findings in new models of SURF1 mitochondrial disease also suggest that two drugs, already FDA-approved for other conditions, may prevent neurological decompensation in Leigh syndrome patients.
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The more we know; the more we can help. Clinical and research leaders from CHOP’s Mitochondrial Medicine team encourage families to join mitoSHARE, a worldwide patient-populated registry initiative stewarded by the United Mitochondrial Disease Foundation (UMDF).
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The model helped identify two supplements that appeared to have therapeutic benefits.
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In a retrospective study, researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) and Lund University in Sweden determined the prevalence, severity, and timing of onset for hearing loss across different genetic subtypes of mitochondrial disease.
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Nearly $12 million awarded for four-year study to develop noninvasive methods across four related, multidisciplinary projects.
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Variants of the FBXL4 gene cause a severe form of the disorder with many complications and no approved treatment options.
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New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.