Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A woman was referred with severe orthostatic hypotension at the age of 21. Ptosis, skeletal muscle hypotonia, and recurrent hypoglycaemia had been noticed in early childhood. There was noradrenergic denervation and adrenomedullary failure but baroreflex afferents, cholinergic innervation, and adrenocortical function were intact. Noradrenaline and adrenaline were undetectable in plasma, urine, and cerebrospinal fluid (CSF), but dopamine was 7-fold to 12-fold normal in plasma, 4-fold normal in urine, and 20-fold normal in CSF. Measurements of catecholamine metabolites showed further evidence for impairment of noradrenaline and adrenaline biosynthesis due to deficient dopamine-beta-hydroxylation. Dopamine-beta-hydroxylase was undetectable in plasma and CSF. Physiological and pharmacological stimuli of sympathetic neurotransmitter release caused increases in plasma dopamine rather than plasma noradrenaline.
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PMID:Congenital dopamine-beta-hydroxylase deficiency. A novel orthostatic syndrome. 288 16

Norepinephrine (NE) is an important modulator of brainstem motoneurons. It is released at high levels during wakefulness, whereas its reduced release during sleep may contribute to motor suppression, including upper airway hypotonia. To identify the receptors that mediate postsynaptic effects of NE in brainstem motoneurons of juvenile and adult rats, we determined the pattern of adrenoceptor mRNA expression and co-expression in retrogradely labeled and acutely dissociated hypoglossal (XII) motoneurons (n=121) using single-cell, real-time reverse transcription-polymerase chain reaction (RT-PCR). The alpha(1B) receptor mRNA was present in most motoneurons (33/39 or 85%). The remaining six adrenoceptor mRNA species investigated were consistently present in micropunches of tissue extracted from the XII nucleus, but were either rarely expressed in individual motoneurons (alpha(1A) mRNA in 15%, alpha(1D) in 14%, alpha(2B/C) in 2% of cells) or absent (alpha(2A), beta(1) and beta(2)). When present, the alpha(1A) and alpha(1D) mRNAs were co-expressed with alpha(1B) mRNA. The adrenoceptor mRNA expression profiles in dissociated locus coeruleus and inferior olive neurons were significantly different. We conclude that postsynaptic effects of NE in XII motoneurons are primarily mediated by alpha(1B) receptors; the effects ascribed to alpha(2) and/or beta adrenoceptors may be exerted presynaptically.
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PMID:Alpha(1B) receptors are the main postsynaptic mediators of adrenergic excitation in brainstem motoneurons, a single-cell RT-PCR study. 1152 38