Dopamine-beta-hydroxylase (DBH) and homovanillic acid (HVA) in autistic children

Garnier, C.; Comoy, E; Barthélémy, Catherine; Leddet, I; Garreau, B.; Müh, J.P.; G, Lelord

doi:10.1007/bf01531575

Cited by 46 publications

(15 citation statements)

References 19 publications

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“…In addition, GATA3 has also been shown to be involved in the development of the central nervous system in mice [95] and the induction of dopamine beta-hydroxylase (DBH) in primary neural crest stem cells [96]. With respect to the latter activity, it is of interest to note that DBH genotype has been associated with autism in some families [97], [98] and that DBH activity has been noted to be elevated in a subgroup of autistic patients [99]. Like the 3 genes discussed above, NFKBIZ, a nuclear regulator of NFKB activity, is also involved in inflammation and immunity.…”

Section: Discussionmentioning

confidence: 99%

Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis

et al. 2009

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Despite the identification of numerous autism susceptibility genes, the pathobiology of autism remains unknown. The present “case-control” study takes a global approach to understanding the molecular basis of autism spectrum disorders based upon large-scale gene expression profiling. DNA microarray analyses were conducted on lymphoblastoid cell lines from over 20 sib pairs in which one sibling had a diagnosis of autism and the other was not affected in order to identify biochemical and signaling pathways which are differentially regulated in cells from autistic and nonautistic siblings. Bioinformatics and gene ontological analyses of the data implicate genes which are involved in nervous system development, inflammation, and cytoskeletal organization, in addition to genes which may be relevant to gastrointestinal or other physiological symptoms often associated with autism. Moreover, the data further suggests that these processes may be modulated by cholesterol/steroid metabolism, especially at the level of androgenic hormones. Elevation of male hormones, in turn, has been suggested as a possible factor influencing susceptibility to autism, which affects ∼4 times as many males as females. Preliminary metabolic profiling of steroid hormones in lymphoblastoid cell lines from several pairs of siblings reveals higher levels of testosterone in the autistic sibling, which is consistent with the increased expression of two genes involved in the steroidogenesis pathway. Global gene expression profiling of cultured cells from ASD probands thus serves as a window to underlying metabolic and signaling deficits that may be relevant to the pathobiology of autism.

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Section: Discussionmentioning

confidence: 99%

Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis

et al. 2009

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“…In one study (Belmaker, Hattab, & Ebstein, 1978) plasmatic DBH activity was superior in children with various types of psychoses than in children with organic cerebral disease or mental retardation. Recently, Garnier et al (1983Garnier et al ( , 1986 again studied this parameter: They found no difference in DBH activity between controls and autistic children as a group; however a significant increase was observed in autistic subjects without mental retardation compared with patients in which autistic syndrome was associated with signs of mental deficiency.…”

Section: Introductionmentioning

confidence: 94%

Catecholamines metabolism in infantile autism: A controlled study of 22 autistic children

Launay

Bursztejn

Ferrari

et al. 1987

J Autism Dev Disord

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In a group of 22 autistic children aged 5 to 16 years and a group of normal controls matched for age and sex, catecholamines metabolism was investigated in plasma, platelets, and urine. This investigation was part of a research project in which several biological parameters (including serotonin) were explored simultaneously in the same children. In the autistic group, epinephrine and norepinephrine were significantly elevated in plasma, while epinephrin, norepinephrine, and dopamine were significantly lower in isolated platelets. No significant difference was found between the two groups for the urinary excretion of epinephrine, norepinephrine, dopamine, DOPAC, and MHPG. Other differences between the two groups in the statistical correlations of several biochemical parameters also suggest abnormalities of bioamine metabolism in the platelets of autistic children.

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“…A significantly higher homovanillylc acid (HVA)/MHPG ratio was found in the CSF of autistic subjects, suggesting an imbalance between the dopaminergic and noradrenergic systems (Gillberg and Svennerholm 1987). Findings concerning serum dopamine-␤ -hydroxylase have been inconsistent and inconclusive (Lake et al 1977;Young et al 1978;Garnier et al 1986). However, to the best of our knowledge, no research on autism has demonstrated significant alterations in platelet [ 3 H]-rauwolscine binding characteristics.…”

Section: Catecholaminesmentioning

confidence: 99%

Peripheral Markers of Serotonergic and Noradrenergic Function in Post-Pubertal, Caucasian Males with Autistic Disorder

Croonenberghs

Delmeire²,

Verkerk³

et al. 2000

Neuropsychopharmacology

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Some studies have suggested that disorders in the peripheral and central metabolism of serotonin (5-HT) and noradrenaline may play a role in the pathophysiology of autistic disorder. This study examines serotonergic and noradrenergic markers in a study(5-15 per 10.000) and is four times more common in boys than in girls. Research on the biological pathophysiology of autism has found some evidence for a role of the turnover of serotonin (5-HT) and catecholamines.

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Dopamine-beta-hydroxylase (DBH) and homovanillic acid (HVA) in autistic children

Cited by 46 publications

References 19 publications

Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis

Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis

Catecholamines metabolism in infantile autism: A controlled study of 22 autistic children

Peripheral Markers of Serotonergic and Noradrenergic Function in Post-Pubertal, Caucasian Males with Autistic Disorder

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