| Title |
Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil
|
|---|---|
| Published in |
Genes & Nutrition, March 2012
|
| DOI | 10.1007/s12263-012-0285-7 |
| Pubmed ID | |
| Authors |
Claudio De Felice, Cinzia Signorini, Thierry Durand, Lucia Ciccoli, Silvia Leoncini, Maurizio D’Esposito, Stefania Filosa, Camille Oger, Alexandre Guy, Valérie Bultel-Poncé, Jean-Marie Galano, Alessandra Pecorelli, Laura De Felice, Giuseppe Valacchi, Joussef Hayek |
| Abstract |
Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various clinical presentations is available. Based on our prior evidence of enhanced O.S. and lipid peroxidation in RTT patients, herein we tested the possible therapeutic effects of ω-3 polyunsaturated fatty acids (ω-3 PUFAs), known antioxidants with multiple effects, on the clinical symptoms and O.S. biomarkers in the earliest stage of RTT. A total of 20 patients in stage I were randomized (n = 10 subjects per arm) to either oral supplementation with ω-3 PUFAs-containing fish oil (DHA: 72.9 ± 8.1 mg/kg b.w./day; EPA: 117.1 ± 13.1 mg/kg b.w./day; total ω-3 PUFAs: 246.0 ± 27.5 mg/kg b.w./day) for 6 months or no treatment. Primary outcomes were potential changes in clinical symptoms, with secondary outcomes including variations for five O.S. markers in plasma and/or erythrocytes (nonprotein bound iron, F(2)-dihomo-isoprostanes, F(3)-isoprostanes, F(4)-neuroprostanes, and F(2)-isoprostanes). A significant reduction in the clinical severity (in particular, motor-related signs, nonverbal communication deficits, and breathing abnormalities) together with a significant decrease in all the examined O.S. markers was observed in the ω-3 PUFAs supplemented patients, whereas no significant changes were evidenced in the untreated group. For the first time, these findings strongly suggest that a dietary intervention in this genetic disease at an early stage of its natural history can lead to a partial clinical and biochemical rescue. |
X Demographics
The data shown below were collected from the profiles of 7 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Norway | 2 | 29% |
| United States | 1 | 14% |
| Tunisia | 1 | 14% |
| Chile | 1 | 14% |
| Canada | 1 | 14% |
| Unknown | 1 | 14% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 7 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 74 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 1% |
| United States | 1 | 1% |
| Netherlands | 1 | 1% |
| China | 1 | 1% |
| Unknown | 70 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 22 | 30% |
| Student > Ph. D. Student | 12 | 16% |
| Student > Master | 6 | 8% |
| Student > Postgraduate | 5 | 7% |
| Student > Doctoral Student | 4 | 5% |
| Other | 12 | 16% |
| Unknown | 13 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 16 | 22% |
| Agricultural and Biological Sciences | 12 | 16% |
| Biochemistry, Genetics and Molecular Biology | 10 | 14% |
| Neuroscience | 10 | 14% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 4% |
| Other | 9 | 12% |
| Unknown | 14 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 12. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 June 2021.
All research outputs
#2,816,289
of 23,577,654 outputs
Outputs from Genes & Nutrition
#55
of 397 outputs
Outputs of similar age
#17,318
of 157,887 outputs
Outputs of similar age from Genes & Nutrition
#2
of 7 outputs
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So far Altmetric has tracked 397 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one has done well, scoring higher than 86% of its peers.
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