Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease was written by Schober, Florian A.;Tang, Jia Xin;Sergeant, Kate;Moedas, Marco F.;Zierz, Charlotte M.;Moore, David;Smith, Conrad;Lewis, David;Guha, Nishan;Hopton, Sila;Falkous, Gavin;Lam, Amanda;Pyle, Angela;Poulton, Joanna;Gorman, Grainne S.;Taylor, Robert W.;Freyer, Christoph;Wredenberg, Anna. And the article was included in Human Molecular Genetics in 2022.Application of 242478-37-1 This article mentions the following:
The SLC25A26 gene encodes a mitochondrial inner membrane carrier that transports S-adenosylmethionine (SAM) into the mitochondrial matrix in exchange for S-adenosylhomocysteine (SAH). SAM is the predominant methyl-group donor for most cellular methylation processes, of which SAH is produced as a byproduct. Pathogenic, biallelic SLC25A26 variants are a recognized cause of mitochondrial disease in children, with a severe neonatal onset caused by decreased SAM transport activity. Here, we describe two, unrelated adult cases, one of whom presented with recurrent episodes of severe abdominal pain and metabolic decompensation with lactic acidosis. Both patients had exercise intolerance and mitochondrial myopathy associated with biallelic variants in SLC25A26, which led to marked respiratory chain deficiencies and mitochondrial histopathol. abnormalities in skeletal muscle that are comparable to those previously described in early-onset cases. We demonstrate using both mouse and fruit fly models that impairment of SAH, rather than SAM, transport across the mitochondrial membrane is likely the cause of this milder, late-onset phenotype. Our findings associate a novel pathomechanism with a known disease-causing protein and highlight the quests of precision medicine in optimizing diagnosis, therapeutic intervention and prognosis. In the experiment, the researchers used many compounds, for example, (S)-(R)-Quinuclidin-3-yl 1-phenyl-3,4-dihydroisoquinoline-2(1H)-carboxylate (cas: 242478-37-1Application of 242478-37-1).
(S)-(R)-Quinuclidin-3-yl 1-phenyl-3,4-dihydroisoquinoline-2(1H)-carboxylate (cas: 242478-37-1) belongs to isoquinoline derivatives. Isoquinoline is a structural isomer of quinoline, which have antiseptic, antipyretic and anti-cyclic properties, and can be used as antimalarial drugs and for the preparation of other antimalarial medicine. They are also used to make oil-soluble dyes, food colorants, pharmaceuticals, pH indicators and other organic compounds. Application of 242478-37-1
Referemce:
Isoquinoline – Wikipedia,
Isoquinoline | C9H7N – PubChem