https://cob.silverchair-cdn.com/cob/content_public/journal/bio/jam/10.1242_bio.060278/3/bio060278.pdf?Expires=1711827491&Signature=G4px-hX-CQRWqXepaWcuG0-Y-QYF06N9pma-LYMFv5E9CQq~vlJaOQI2uuSjvfqBwOSWi3OMmI79SiubfEXv94SN1ek0zC2F01FEYHL7El0mIQtZ-GTaXhO6IjvA-oOCPOcMpSjZomYdtICQ2E9FpDyRKP70OsoFX-c2qxbyQ6LnPrRgiFgfraB~UqADJy-WSqYrLgNvjSfnUXahRkSo45PxA9pSq8kAm8Pxjivc59PF27oDji~p2dufwrRQlCvYKzjcgaPRg43qMsmTh8DML0rdu1BZWnxueti5C-Rr6znyJPQQfRWDoQw1JVg28p9n15vtBkZjOIRdKg04gKVFSw__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA One of the great scientific discoveries of the 20th century is the extraordinary similarity among all living species at the molecular level, despite the extreme diversity of their appearance […]
Non-monogenic inheritance of mitochondrial disease: a case of atypical Leigh syndrome caused by three apparently pathogenic variants, each in the heterozygous state
https://www.frontiersin.org/articles/10.3389/fcell.2021.767407/full The application of DNA sequencing has led to tremendous progress in our understanding and diagnosis of mitochondrial disease, with mutations in hundreds of genes now established as causes. However, […]
A novel, brutally clever approach to ameliorating mitochondrial disease
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183817/ https://pubmed.ncbi.nlm.nih.gov/37021792/ Every now and then there appears a truly novel proposal for alleviating the misery of mitochondrial disease. In this paper an international team presents such an idea. It’s […]
On Curing Genetic Diseases by Genome Editing – Eric Topol interviews Fyodor Urnov
https://erictopol.substack.com/p/on-genome-editing-with-fyodor-urnov?utm_campaign=email-half-post&r=3we41&utm_source=substack&utm_medium=email#details Fyodor Urnov has been a pioneer and leader in genome editing, a term he invented, since that field began. He is a U.C. Berkeley colleague of Jennifer Doudna, who […]
Energy shortage is not always the main problem in mitochondrial disease: New insight from the first proven inherited mitochondrial disorder
This paper is a brilliant advance in our scientific understanding of mitochondrial disease, though it does not lead immediately to a treatment. https://www.pnas.org/doi/10.1073/pnas.2304884120 Leber hereditary optic neuropathy (LHON) is […]
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