Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease.

Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 additional family members. Various patterns of presentation were observed in patients with clinical diagnoses of Stargardt disease. The genetic study identified 2 mutations in 75% of families (9/12); a second mutation could not be found in the remaining 25% of families (3/12). The most frequent mutation was G1961E, found in 17% of families (2/12). This finding is similar to that of a previous analysis report of an Italian patient series. Four new mutations were also identified: Tyr1858Asp, Leu1195fsX1196, p.Tyr850Cys, and p.Thr959Ala. Our results suggest that PCR and direct DNA sequencing are the most appropriate techniques for the analysis of the ABCA4 gene. However, this method requires supplementation with specific PCR analysis to diagnose large deletions. The study of the families identified healthy carriers and affected subjects in presymptomatic stages and was also useful for evaluating the risk of transmission to progeny. Combined ophthalmologic and genetic evaluation enabled better clinical management of these families.

Wild Amaranthus caudatus seed oil, a nutraceutical resource from Ecuadorian flora.

Seed oil of wild Amaranthus caudatus from Ecuador was analyzed for determining the tocopherol, fatty acid, and sterol contents. The data obtained were compared with the analogous chemical profile of seed oil of Italian A. caudatus with the objective of evaluating the nutraceutical and alimentary potential of the Ecuadorian matrix. Supercritical fluid and ultrasound-enhanced extractions were performed on both matrices. Qualitative and quantitative determinations of tocopherols were performed by HPLC, whereas GC and GC-MS were used to determine the fatty acid composition and sterols, respectively. Supercritical fluid extraction at 400 atm was the most efficient extraction method in terms of both total yield extract and tocopherol yield. Seeds of Ecuadorian of A. caudatus contained higher levels of tocopherols than Italian samples, whereas the fatty acid composition and sterol content were similar. From the obtained results it can be suggested that seed oil of wild Ecuadorian A. caudatus can prove to be an effective nutraceutical and alimentary resource and a valid alternative to the European varieties.