Recently, evaluation of lipid profile has assumed great relevance in neurodevelopmental and neuro-psychiatric disorders. In particular, the ratio between LC omega 3 fatty acids and omega 6 polyunsaturated fatty acids has been widely investigated as a potential nutritional modulator for neuro-protection. In this context, Rett syndrome (RTT) deserves a special mention. RTT is a rare (1:10,000) neurodevelopmental disorder, affecting almost exclusively females, and mainly caused by a functional deficiency of the Methyl-CpG-binding protein 2 (MeCP2), a nuclear protein that binds to methylated CpGs and regulates gene expression.
In a recent paper (2014: In Press), researchers from the University of Sienna, Italy, investigated altered erythrocyte membrane fatty acid profiles (best way to interpret ongoing essential fatty acid status) in typical RTT. A total of 24 female patients (mean ages: 11.6: 3.5+) with confirmed MECP2 gene mutation and RTT typical presentation, as well as 12 typically developing female controls. After initial blood sampling, all 24 subjects (RTT) in this study were placed on a typical Mediterranean diet and administered omega 3 fatty acids containing fish oil for a period of 12 months.
The data from the foregoing study indicated, for the first time, the presence of an essential fatty acid deficit in RTT. Initial findings demonstrated concerns regarding omega 6 polyunsaturated fatty acids, saturated fatty acid profile and trans-fatty acids. Follow-up, post intervention of omega 3 supplementation lead to improved omega 6:omega 3 ratio and serum plasma lipid profile. Interestingly, this fatty acid pattern appears to be unique of RTT and, in particular it significantly differs from the lipid profile previously reported in autism, where an increase in monounsaturated fatty acids, a decrease in EPA and DHA with a consequently increased omega 6 to omega 3 ratio was described. In reference to the above-mentioned, while RTT has long been considered to be a component of autism spectrum disorders (ASD), only recently the American Psychiatric Association considers RTT as a nosologically distinct neurodevelopmental. Hence the most recent data on RTT further adds a new distinctive feature at the molecular level (essential fatty acid profile) to the clinical differences with autism, which have lead to the reclassification of this disorder.
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