Without adequate copper, newly synthesized collagen remains weak
Recent progress in the green Synthesis, Characterization, and applications of selenium nanoparticles
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TIMM50 MICOS13: Encephalopathy MC5DN1: ATPAF2 Metabolic encephalopathy: ATP5F1D Encephalocardiomyopathy: TMEM70 Senger: AGK Developmenat delay, Optic atrophy, Polyneuropathy: ATAD3A Encephalopathy, Early onset: MDH2 Muscle biopsy: Distinctive features of mitochondrial disorders Succinate dehydrogenase (SDH) stain: Pathology patterns Increased staining of muscle fibers Common abnormality in mitochondrial disorders: Most sensitive & specific stain for mitochondrial proliferation in muscle fibers Specific confirmation of mitochondrial dysfunction & proliferation Muscle fibers with increased staining: Disorders Mitochondrial disease: Mitochondrial proliferation Other: Regenerating muscle fibers SDH positive (Ragged red) muscle fibers with prominent lipid accumulation: Coenzyme Q 10 deficiency SDH+ COX+ muscle fibers Reduced staining of muscle fibers Fe-S disorders ISCU Sertraline-related lipid myopathy SDH reactive blood vessels (Dark stain) MELAS MTCYB Cytochrome oxidase (COX) stain: Pathology patterns General Usual pathologies Absent or reduced staining of muscle fibers Reduced COX activity distribution: May be diffuse or in scattered fibers Degree of reduced COX activity in SDH+ fibers: Variable with multiple mtDNA mutations Increased staining of fibers Mitochondrial proliferation Variably present depending on syndrome May identify patients with mitochondrial disorders not detected by SDH stains Scattered abnormal muscle fibers: Properties COX-negative but normal SDH staining: Suggests mtDNA mutation affecting mitochondrial protein synthesis Mutations in COX I, COX II, or COX III genes Heteroplasmic mutation Both COX-positive & SDH increased fibers: Suggests specific mutations MELAS: Many SDH+ fibers are COX+ Mutations in mtDNA protein encoding genes, except COX genes Cytochrome b: All SDH+ fibers are COX+ ND genes Perimysial vessels in MELAS: May also be SDH+ & COX+ ETFDH Also see: Pathology SDH-Increased, COX-negative fibers May have reduced immunocytochemical detection of cytochrome oxidase II Suggests mutations affecting mitochondrial protein synthesis generally Perimysial vessels in MERRF: May also be SDH+ & COX- Reduced mtDNA-encoded COX subunits I and II in COX-deficient muscle fibres: mtDNA mutations Reduction of all COX subunits in all muscle fibers:
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