Fatty Acid Profile and Antioxidant Capacity of Dabai (Canarium odontophyllum L.): Effect of Origin and Fruit Component.

In the present work, the influence of geographical location on the fatty acid profiles, antioxidant potential, as well as cytotoxicity of edible dabai fruit fractions (kernel, skin, and pulp) were analyzed. The fatty acid profiles were determined by Gas Chromatography (GC), and the antioxidant activity was quantified with free 2,2-diphenyl-1-picr/ylhdrazyl, while the cytotoxicity was assessed by the brine shrimp lethality test. The results showed that the samples from Sibu, Serian, and Kapit geographical locations had a high content of the saturated fatty acids, ranging from 46.63% to 53.31% in the three fractions. The highest mono-saturated fatty acids (MUFA) content was found in Sibu. Serian and Kapit kernel fractions MUFA, however, ranged from 21.2% to 45.91%. No fatty acid composition was detected in Bentong and Kanowit. The fatty acid composition and DPPH free radical scavenging antioxidant activity of dabai were statistically independent using a multivariate analysis in different localities in Malaysia. The skin fraction had a more appreciable antioxidant potential and toxicity level than the pulp and kernel fractions. The highest antioxidant activity (EC50 198.76 ± 1.06 µg/mL) with an LC50 value of 1387.22 µg/mL was obtained from the Sibu skin fraction. Therefore, the fatty acid composition, antioxidant, as well as cytotoxicity analyses of the extracts from different localities indicated that "geographical location" remarkably influenced fatty acid composition, antioxidant activity, and toxicity.

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive disorder, which is an important cause of blindness in childhood. The first known gene, CYP1B1, accounts for a variable proportion of cases in most populations. A second gene, LTBP2, was recently reported in association with a syndrome, in which glaucoma is secondary to lens dislocation. We report on the molecular and clinical profile of 34 families diagnosed as PCG, all originating from the Roma/Gypsy founder population. Comprehensive sequencing analysis revealed a level of heterogeneity unusual for this population, with five CYP1B1 and one ancestral LTBP2 mutation accounting for ∼70% of patients (25 out of 37) and the remainder still unexplained. Homozygosity for the founder LTBP2 p.R299X mutation resulted in a more severe clinical phenotype and poorer outcome despite a markedly higher number of surgical interventions. The genetically homogeneous group of p.R299X homozygotes showed variable phenotypes (presumably also underlying pathogenetic mechanisms), wherein PCG proper with primary dysgenesis of the trabecular meshwork, and Marfan syndrome-like zonular disease with ectopia lentis and later onset secondary glaucoma are two extremes. The spectrum manifestations may occur in different combinations and have a different evolution even within the same sibship or a single patient. Preliminary observations on compounds with mutations in both CYP1B1-LTBP2 suggest that the observed combinations are of no clinical significance and digenic inheritance is unlikely. We provide a population genetics perspective to explain the allelic heterogeneity, comparing the history and geographic distribution of the two major founder mutations--p.R299X/LTBP2 and p.E387K/CYP1B1.