Rett syndrome (RTT) is a genetic cause of autism, mainly due to mutations in the Xlinked MeCP2 gene or more rarely in the CDKL5 or FOXG1 genes, which affects almost exclusively females, with a frequency of 1:10,000. Although rare, RTT can be considered a natural model for neurodegenerative diseases with high social impact, and represents a paradigm for the complex nutritional issues in pediatric neurodevelopmental disorders. The finding of elevated circulating levels of oxidative stress (OS) markers in RTT patients adds new perspectives to the micronutritional manipulation in these patients. To this regard, an excessive peroxidation of Polyunsaturated fatty acids ω-6 (PUFA) - i.e., F2-isoprostanes from arachidonic acid, or ω-3 PUFAs - i.e., F4-neuroprostanes from docosahexaenoic acid - implicates an excessive consumption of these PUFAs at the cell membrane level. Our prior investigations suggest a positive effect of ω-3 PUFA supplementation to RTT girls in terms of clinical status and OS markers levels. The results of the present study indicates that a high-dosage ω-3 PUFA supplementation (fish oil) in the early stages of RTT is able to partially arrest the natural progression of the disease.
Acidi grassi omega-3 nella sindrome di Rett studio clinico al primo stadio della malattia
Alessandra Pecorelli;VALACCHI, Giuseppe;
2013
Abstract
Rett syndrome (RTT) is a genetic cause of autism, mainly due to mutations in the Xlinked MeCP2 gene or more rarely in the CDKL5 or FOXG1 genes, which affects almost exclusively females, with a frequency of 1:10,000. Although rare, RTT can be considered a natural model for neurodegenerative diseases with high social impact, and represents a paradigm for the complex nutritional issues in pediatric neurodevelopmental disorders. The finding of elevated circulating levels of oxidative stress (OS) markers in RTT patients adds new perspectives to the micronutritional manipulation in these patients. To this regard, an excessive peroxidation of Polyunsaturated fatty acids ω-6 (PUFA) - i.e., F2-isoprostanes from arachidonic acid, or ω-3 PUFAs - i.e., F4-neuroprostanes from docosahexaenoic acid - implicates an excessive consumption of these PUFAs at the cell membrane level. Our prior investigations suggest a positive effect of ω-3 PUFA supplementation to RTT girls in terms of clinical status and OS markers levels. The results of the present study indicates that a high-dosage ω-3 PUFA supplementation (fish oil) in the early stages of RTT is able to partially arrest the natural progression of the disease.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
