title: Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome.
abstract: We immunohistochemically examined neurotransmitter systems, which function in the brainstem and are involved in neuronal organization of respiration, in an autopsy brain from a patient with Rett syndrome (RS). Immunoreactivity (IR) for tyrosine hydroxylase, a functional marker for catecholaminergic neurons, was severely reduced in the locus ceruleus, while that for tryptophan hydroxylase involved in serotonin synthesis was spared in the raphe nuclei. In the brainstem, IR for substance P (SP) was reduced in the parabrachial complex and that for methionine-enkephalin (met-enk) was affected in the parabrachial, hypoglossal, dorsal vagal and solitary nuclei. In addition, expressions of these neuropeptides were also disturbed in the basal ganglia. A widespread altered expression of antagonistic neuropeptides, SP and met-enk, may be involved in the pathogenesis of RS, especially in its respiratory manifestation.
authors.affiliation: Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, 162-8666, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Ozawa
authors.forename: T
authors.initials: T
authors.lastname: Matsuishi
authors.forename: K
authors.initials: K
authors.lastname: Hamano
authors.forename: S
authors.initials: S
authors.lastname: Takashima
mesh_terms: D000293:Adolescent; D001479:Basal Ganglia / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D001933:Brain Stem / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D002395:Catecholamines / Q000096:biosynthesis; D015536:Down-Regulation / Q000235:genetics*; D004744:Enkephalin, Methionine / Q000172:deficiency / Q000235:genetics; D004798:Enzymes / Q000172:deficiency / Q000235:genetics; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008125:Locus Coeruleus / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D009479:Neuropeptides / Q000172:deficiency* / Q000235:genetics; D018377:Neurotransmitter Agents / Q000172:deficiency* / Q000235:genetics; D011903:Raphe Nuclei / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D012120:Respiration Disorders / Q000201:enzymology* / Q000209:etiology / Q000473:pathology; D015518:Rett Syndrome / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D012701:Serotonin / Q000096:biosynthesis; D013373:Substance P / Q000172:deficiency / Q000235:genetics; D014365:Tryptophan Hydroxylase / Q000187:drug effects / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000187:drug effects / Q000235:genetics
chemical_list: D002395:Catecholamines; D004798:Enzymes; D009479:Neuropeptides; D018377:Neurotransmitter Agents; D012701:Serotonin; D013373:Substance P; D004744:Enkephalin, Methionine; D014446:Tyrosine 3-Monooxygenase; D014365:Tryptophan Hydroxylase