Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

RP-HPLC-ESI-MS profile of naturally occurring salivary peptides of subjects with autistic spectrum disorder [ASD; N = 27:12 with diagnosis of autism, 1 with diagnosis of Asperger, 14 with diagnosis of pervasive developmental disorders not otherwise specified (PDD-NOS)] was compared to that of age-matched controls with the goal of identifying differences that could turn out to become hallmarks of at least a subgroup of ASD individuals. Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p < 0.0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p < 0.005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%). Developmental scale assessment (Griffith or WISC-R) carried out on 14 ASD subjects highlighted a normal to borderline cognitive development in 10 of them, all included in the hypo-phosphorylated group. Phosphorylation of salivary peptides involves a Golgi casein kinase common to many organs and tissues, CNS included, whose expression seems to be synchronized during fetal development. Hypo-phosphorylation of salivary peptides suggests potential asynchronies in the phosphorylation of other secretory proteins, which could be relevant in CNS development either during embryonic development or in early infancy. These results suggest that analysis of salivary phospho-peptides might help to discriminate a considerable subgroup of ASD patients.
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PMID:Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders. 1936 26

Examination of the hypothalamic-pituitary-adrenal (HPA) axis via cortisol among individuals with autism spectrum disorder (ASD) has been a growing area of research interest. The following review includes investigations of cortisol conducted with cohorts of individuals with ASD across the lifespan over the past four decades. In general, studies find dysregulation when examining the diurnal rhythm as a whole in lower functioning children with ASD; however, limited evidence exists for alterations in higher functioning individuals and in specific aspects of the diurnal cycle (cortisol awakening response, daily decline, variability) relative to typically developing individuals. Studies examining the responsiveness of cortisol in ASD suggest an overall sluggishness of the HPA axis in responding to physiological or physical manipulation. Hypo-responsiveness was observed in stressors that involve social evaluative threat, however, hyper-responsiveness of the HPA axis was observed in situations involving unpleasant stimuli or relatively benign social situations. A number of important considerations when conducting studies of cortisol in ASD cohorts are discussed.
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PMID:A review of rhythm and responsiveness of cortisol in individuals with autism spectrum disorders. 2510 63