Assessment of in vitro antimicrobial and anti-breast cancer activities of extracts isolated from desert truffles in Saudi Arabia

Truffles are consumed worldwide as a type of precious food. Desert truffles are characterized by their growth under extreme soil and climate conditions. They have numerous nutritional and medicinal applications. Desert truffles have been shown to exhibit various biological activities. During the present work, we identified two truffle types collected from Riyadh Province, Kingdom of Saudi Arabia, as Tirmania nivea and Terfezia claveryi. Their extracts showed significant antimicrobial activity against Bacillus subtilis, while the activity was less obvious against Escherichia coli. Hexane and ethyl acetate extracts of both types showed a dose-dependent effect against MCF-7 cancer cells, where their highest toxicities ranged from 91-93%. The lowest effective IC 50 values were 378.9±0.96 and 215.8±0.92 μg/mL for T. nivea and T. claveryi, respectively

Assessment of in vitro antimicrobial and anti-breast cancer activities of extracts isolated from desert truffles in Saudi Arabia

Truffles are consumed worldwide as a type of precious food. Desert truffles are characterized by their growth under extreme soil and climate conditions. They have numerous nutritional and medicinal applications. Desert truffles have been shown to exhibit various biological activities. During the present work, we identified two truffle types collected from Riyadh Province, Kingdom of Saudi Arabia, as Tirmania nivea and Terfezia claveryi. Their extracts showed significant antimicrobial activity against Bacillus subtilis, while the activity was less obvious against Escherichia coli. Hexane and ethyl acetate extracts of both types showed a dose-dependent effect against MCF-7 cancer cells, where their highest toxicities ranged from 91-93%. The lowest effective IC 50 values were 378.9±0.96 and 215.8±0.92 μg/mL for T. nivea and T. claveryi, respectively

Expanding the genetic heterogeneity of intellectual disability

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related variants. In addition to established ID genes, including ones for which we describe unusual mutational mechanism, some of these variants represent the first confirmatory disease-gene links following previous reports (TRAK1, GTF3C3, SPTBN4 and NKX6-2), some of which were based on single families. Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, NCKAP1, NFASC, PCDHGA10, PPP1R21, SLC12A2, SLK, STK32C and ZFAT). We highlight MADD and PCDHGA10 as particularly compelling candidates in which we identified biallelic likely deleterious variants in two independent ID families each. We also highlight NCKAP1 as another compelling candidate in a large family with autosomal dominant mild intellectual disability that fully segregates with a heterozygous truncating variant. The candidacy of NCKAP1 is further supported by its biological function, and our demonstration of relevant expression in human brain. Our study expands the locus and allelic heterogeneity of ID and demonstrates the power of positional mapping to reveal unusual mutational mechanisms

Cytotoxic activities of different solvent extracts of tirmania nivea and terfezia claveryi against HepG2 and L929 cells

Desert truffles constitute an unexplored source for naturally occurring bioactive compounds. In the current work, different solvents have been used to extract bioactive components from T. nivea and T. claveryi. All tested extracts showed cytotoxic activities against HepG2 and L929 cells in a dose-dependent manner. Hexane extracts of T. nivea and T. claveryi gave highest toxicities of 91.23±0.03 and 92.7±0.01%, respectively, at 1 mg/mL, while the ethyl acetate extract resulted in toxicity of 94.5±0.02at 1 mg/mL in case of T. claveryi, which is higher by about 6% than that obtained for T. nivea. Furthermore, morphological examination showed that cells are gradually affected by increasing extract concentration

Cytotoxic Activities of Different Solvent Extracts of Tirmania nivea and Terfezia claveryi against HepG2 and L929 Cells

454-457Desert truffles constitute an unexplored source for naturally occurring bioactive compounds. In the current work, different solvents have been used to extract bioactive components from T. nivea and T. claveryi. All tested extracts showed cytotoxic activities against HepG2 and L929 cells in a dose-dependent manner. Hexane extracts of T. nivea and T. claveryi gave highest toxicities of 91.23±0.03 and 92.7±0.01%, respectively, at 1 mg/mL, while the ethyl acetate extract resulted in toxicity of 94.5±0.02at 1 mg/mL in case of T. claveryi, which is higher by about 6% than that obtained for T. nivea. Furthermore, morphological examination showed that cells are gradually affected by increasing extract concentration

In Vitro Anti-Proliferative Potentials of Phaeangium lefebvrei Desert Truffle towards MCF-7, HepG2 and L929 Cell Lines

858-862Phaeangium lefebvrei belongs to desert truffles found naturally in deserts in the Arab Peninsula, and mainly consumed by birds. Therefore, they still present a natural un investigated source for the presence of bioactive molecules. In the present investigation, we evaluated the anti-proliferative activities of different solvent extracts of P. lefebvrei against MCF-7, HepG2 and L929 cancer cells. Results showed that evaluated extracts have promising anticancer effects against different tested cell lines. Moreover, Ethyl acetate extract resulted in maximal growth inhibition against L929 cells (95.7±0.02%), while both ethyl acetate and hexane extracts inhibited MCF-7 cell growth by about 92.5±0.03 and 91.7±0.04%, respectively. Furthermore, the obtained IC50 values for these extracts against MCF-7 cells recorded 103.8±0.09 and 553.6±0.1 mg/mL, respectively. Accordingly, desert truffles represent a significant potential in the development of promising anticancer pharmaceutical drugs

In vitro anti-proliferative of Phaengium lefebvrei desert truffle towards MCF-7, HepG2 and L929 cell lines

Phaeangium lefebvrei belongs to desert truffles found naturally in deserts in the Arab Peninsula, and mainly consumed by birds. Therefore, they still present a natural un investigated source for the presence of bioactive molecules. In the present investigation, we evaluated the anti-proliferative activities of different solvent extracts of P. lefebvrei against MCF-7, HepG2 and L929 cancer cells. Results showed that evaluated extracts have promising anticancer effects against different tested cell lines. Moreover, Ethyl acetate extract resulted in maximal growth inhibition against L929 cells (95.7±0.02%), while both ethyl acetate and hexane extracts inhibited MCF-7 cell growth by about 92.5±0.03 and 91.7±0.04%, respectively. Furthermore, the obtained IC50 values for these extracts against MCF-7 cells recorded 103.8±0.09 and 553.6±0.1 mg/mL, respectively. Accordingly, desert truffles represent a significant potential in the development of promising anticancer pharmaceutical drugs

Expanding the genetic heterogeneity of intellectual disability

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related variants. In addition to established ID genes, including ones for which we describe unusual mutational mechanism, some of these variants represent the first confirmatory disease\u2013gene links following previous reports (TRAK1, GTF3C3, SPTBN4 and NKX6-2), some of which were based on single families. Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, NCKAP1, NFASC, PCDHGA10, PPP1R21, SLC12A2, SLK, STK32C and ZFAT). We highlight MADD and PCDHGA10 as particularly compelling candidates in which we identified biallelic likely deleterious variants in two independent ID families each. We also highlight NCKAP1 as another compelling candidate in a large family with autosomal dominant mild intellectual disability that fully segregates with a heterozygous truncating variant. The candidacy of NCKAP1 is further supported by its biological function, and our demonstration of relevant expression in human brain. Our study expands the locus and allelic heterogeneity of ID and demonstrates the power of positional mapping to reveal unusual mutational mechanisms