l carnitine vs acetyl l carnitine hyperthyroidism and Thyroid Disease - page 1 Carnitine: Genetic Variants Affecting Mitochondrial

Loss of proteostasis, another primary hallmark, reflects the declining ability of cells to maintain protein quality

Surface-level injuries that need repair

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Arg31Ser NDUFA1 protein Accessory protein for Complex I Mutations: Reduced levels of Complex I formation Inner mitochondrial membrane ND2 module of complex I Clinical: 2 syndromes Infantile encephalopathy: Leigh syndrome Onset Age: 4 to 9 months Developmental delay Clinical Hypotonia Nystagmus Choreoathetosis Tendon reflexes: Reduced Death: occipital Variants Juvenile & Adult onset: GFAP mutations NDUFV1 deficiency Encephalopathy (Leigh-like) with defect of Mitochondrial & Peroxisomal Fission 1 (EMPF1) 71 Dynamin 1-like (DNM1L

Metabolites from cells were extracted by quenching plates in liquid nitrogen to arrest metabolic activity, and lysing cells in 800 l of a cold (20 C) solution of methanol 80% in water (containing 1 mg noravline/ml as internal standard)