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Minerva Biotecnologica 2015 September;27(3):143-7

Copyright © 2015 EDIZIONI MINERVA MEDICA

lingua: Inglese

Biogenic amines as biochemical markers of autism: a review

Hao X. 1, Pei S. 2, Zhu M. 1, Cai Y. 1, Liu S. 1, Wen C. 1, Cao J. 1

1 Xuzhou Children’s Hospital, Quanshan, Xuzhou, Jiangsu, China; 2 Department of Child Health Rehabilitation, Maternal and Child Health Care Hospital of Gushi County, Gushi, Xinyang, Henan Province, China


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Autism spectrum disorders (ASD) constitute a complex, heterogeneous, multifactorial group of neurodevelopmental conditions characterized by impairment of social interactions, communication issues and repetitive behaviors. The heterogeneity of ASD is emerging as a dominant theme and poses a complex challenge in developing new treatments as well as biomarkers. Although there are umpteen biomarkers identified in relation to ASD, abnormalities in biogenic amines from the tryptophan metabolism pathway have been more commonly implicated in ASD. This review is a compilation of the reports on peripheral alterations of the biogenic amines of the tryptophan pathway in ASD. Based on the literature search of previous studies, whole blood serotonin may be considered as a diagnostic marker as well as a genetic vulnerability factor for this disease. The one-time ”after sleep offset” measurement of plasma melatonin seems to be a sensitive, practical, feasible and convenient measurable parameter in the clinical set up and the decrease reported in this parameter in ASD seems to perform better than hyperserotoninemia in terms of distinguishing patients and their relatives from controls. Increased platelet NAS adds to the list of ASD biomarkers and thus the serotonin-NAS-melatonin pathway could serve as a combination biomarker for ASD. Considering the fact that there is one study of exploration of the pathway as a biomarker, the study can be replicated in different set-ups and randomized controlled trials can be conducted in this area. This will give a clear picture of associations of the disruption of the pathway with clinical symptoms and severity as well as subtype of the disease.

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