PubMed · 7023205
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R C Elston. 1981. Segregation analysis.. https://doi.org/10.1007/978-1-4615-8303-5_2
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Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.
A series of 6-alkylaminopyridazine-3-carboxylic acid derivatives was tested for dopamine beta-hydroxylase inhibitory activity in vitro according to the method of Kruse et al. Methyl 6-alkylaminopyridazine-3-carboxylates (4) were synthesized through the reaction of methyl 6-chloropyridazine-3-carboxylate (1) with ammonia followed by the condensation with primary amines, and by the methanolysis of the resulting 6-alkylaminopyridazine-3-carboxamides (3) in methanol in the presence of boron trifluoride etherate. Among tested compounds, 6-benzylaminopyridazine-3-carboxylic acid was found to have the most potent inhibitory activity, which was in the same level of the activity of fusaric acid.
Dopamine beta-monooxygenase is shown to catalyze the oxidation of N,N,N',N'-tetramethyl-1,4-phenylenediamine (TMPD) to its cation radical in the presence of a regular substrate and molecular oxygen. The enzyme-mediated oxidation of TMPD is stoichiometrically coupled with the hydoxylation of the substrate to the corresponding enzymatic product. TMPD is kinetically well behaved as an alternate electron donor for the enzyme with a potency comparable to that of the most efficient electron donor, ascorbate. Dopamine beta-monooxygenase mediated oxidation of TMPD has been employed to design a convenient and sensitive spectrophotometric assay for the enzyme. The finding that TMPD is a well behaved facile alternate electron donor for dopamine beta-monooxygenase raises some interesting novel questions regarding the specificity and chemistry of the reduction site, which may have important implications on the reduction of active site coppers of the enzyme.