Pubmed du 21/04/09

mercredi 22 avril 2009

1. Al-Mosalem OA, El-Ansary A, Attas O, Al-Ayadhi L. Metabolic biomarkers related to energy metabolism in Saudi autistic children. Clin Biochem ;2009 (Apr 16)

Objectives : Energy metabolism is usually manipulated in many neurodegenerative diseases. Autism is considered a definable systemic disorder resulting in a number of diverse factors that may affect the brain development and functions both pre and post natal. The increased prevalence of autism will have enormous future public implications and have stimulated intense research into potential etiologic factors. This study aims to establish a connection between autism and the deterioration accompanied it, especially in the brain cognitive areas through a postulation of energy manipulation. Material and methods : The biochemical changes in activities of enzymes and pathways that participate in the production of ATP as the most important high energy compound needed by human brain was measured in Saudi autistic children. Na(+)/ K(+)ATPase, ectonucleotidases (NTPDases) (ADPase and ATPase) and creatine kinase (CK), were assessed in plasma of 30 Saudi autistic patients and compared to 30 age-matching control samples. In addition, adenosine mono, di and trinucleotides (ATP, ADP, and AMP) were measured calorimetrically in the red blood cells of both groups and the adenylate energy charge (AEC) was calculated. Moreover, lactate concentration in plasma of both groups was monitored. Results : The obtained data recorded 148.77% and 72.35% higher activities of Na(+)/ K(+)ATPase and CK respectively in autistic patients which prove the impairment of energy metabolism in these children compared to age and sex matching healthy controls. While ADPase was significantly higher in autistic patients, ATPase were non-significantly elevated compared to control. In spite of the significant increase of Na(+)/ K(+)ATPase activity in autistic patients, there was no significant difference in the levels of ATP, ADP, and AMP in both groups and the calculated AEC values were 0.814+/- 0.094 and 0.806+/-0.081 for autistic and control groups respectively. The unchanged AEC value in autistic patients was easily correlated with the induced activity of CK and ADPase as two enzymes playing a critical role in the stabilization of AEC. Lactate as an important energy metabolite for the brain was significantly higher in autistic patients compared to control showing about 40% increase. Conclusion : The present study confirmed the impairment of energy metabolism in Saudi autistic patients which could be correlated to the oxidative stress previously recorded in the same investigated samples. The identification of biochemical markers related to autism would be advantageous for earlier clinical diagnosis and intervention.

2. Edelson LR, Saudino KJ. Genetic and Environmental Influences on Autistic-Like Behaviors in 2-Year-Old Twins. Behav Genet ;2009 (Apr 18)

This study aims to explore the genetic and environmental contributions to autistic-like behaviors in a general population sample of toddlers. In a classic twin study of 313 same-sex, 2-year-old twin pairs, autistic-like behaviors were assessed via parent ratings on the pervasive developmental problems subscale of the Child Behavior Checklist and observationally using tester ratings on the orientation/engagement subscale of the Behavior Rating Scale. Analyses show moderate, significant heritabilities for both measures of autistic-like behaviors, as well as modest, but significant shared environmental effects. These genetic and environmental influences overlap greatly between the two measures. Autistic-like behaviors in 2-year-old twins are largely genetic in etiology, but are also influenced by a shared environmental component at this age. This is the first study to examine the etiology of such behaviors in a sample of toddlers, thus providing novel information which could guide future research on genetic and environmental factors that affect these behaviors.


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