Objective To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. Background DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. Methods We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing. Pathogenic variants were sought by a combination of bioinformatic filtering and cosegregation testing among affected individuals within the families. We performed function assays and generated a zebrafish morpholino knockdown model. Results A novel filamin C gene splicing variant (FLNC c.7251+1 G>A) was identified by WES in all affected family members in the two Italian families. A separate novel splicing mutation (FLNC c.5669-1delG) was identified in the US family. Western blot analysis of cardiac heart tissue from an affected individual showed decreased FLNC protein, supporting a haploinsufficiency model of pathogenesis. To further analyze this model, a morpholino knockdown of the ortholog filamin Cb in zebrafish was created which resulted in abnormal cardiac function and ultrastructure. Conclusions Using WES, we identified two novel FLNC splicing variants as the likely cause of DCM in three families. We provided protein expression and in vivo zebrafish data supporting haploinsufficiency as the pathogenic mechanism leading to DCM.
Plant diseases are biotic stresses that restrict crop plants’ ability to develop and produce. Numerous foliar diseases, such as chocolate spots, can cause significant production losses in Vicia faba plants. Certain chemical inducers, including salicylic acid (SA), oxalic acid (OA), nicotinic acid (NA), and benzoic acid (BA), were used in this study to assess efficacy in controlling these diseases. A foliar spray of these phenolic acids was used to manage the impacts of the biotic stress resulting from disease incidence. All tested chemical inducers resulted in a significant decrease in disease severity. They also enhanced the defense system of treated plants through increasing antioxidant enzyme activity (Peroxidase, polyphenol oxidase, β-1, 3-glucanase, and chitinase) compared to the corresponding control. Healthy leaves of faba plants recorded the lowest (p < 0.05) values of all antioxidant activities compared to those plants infected by Botrytis fabae. Moreover, the separation of proteins using SDS-PAGE showed slight differences among treatments. Furthermore, foliar spray with natural organic acids reduced the adverse effects of fungal infection by expediting recovery. The SA (5 mM) treatment produced a pronounced increase in the upper, lower epidermis, palisade thickness, spongy tissues, midrib zone, length, and width of vascular bundle. The foliar application with other treatments resulted in a slight increase in the thickness of the examined layers, especially by benzoic acid. In general, all tested chemical inducers could alleviate the adverse effects of the biotic stress on faba bean plants infected by Botrytis fabae.
The kingdom of Saudi Arabia (SA) ranks fifth in Asia in terms of area. It features broad biodiversity, including interesting flora, and was the historical origin of Islam. It is endowed with a large variety of plants, including many herbs, shrubs, and trees. Many of these plants have a long history of use in traditional medicine. The aim of this review is to evaluate the present knowledge on the plants growing in SA regarding their pharmacological and biological activities and the identification of their bioactive compounds to determine which plants could be of interest for further studies. A systematic summary of the plants’ history, distribution, various pharmacological activities, bioactive compounds, and clinical trials are presented in this paper to facilitate future exploration of their therapeutic potential. The literature was obtained from several scientific search engines, including Sci-Finder, PubMed, Web of Science, Google Scholar, Scopus, MDPI, Wiley publications, and Springer Link. Plant names and their synonyms were validated by ‘The Plant List’ on 1 October 2021. SA is home to approximately 2247 plant species, including native and introduced plants that belong to 142 families and 837 genera. It shares the flora of three continents, with many unique features due to its extreme climate and geographical and geological conditions. As plants remain the leading supplier of new therapeutic agents to treat various ailments, Saudi Arabian plants may play a significant role in the fight against cancer, inflammation, and antibiotic-resistant bacteria. To date, 102 active compounds have been identified in plants from different sites in SA. Plants from the western and southwestern regions have been evaluated for various biological activities, including antioxidant, anti-cancer, antimicrobial, antimalarial, anti-inflammatory, anti-glycation, and cytotoxic activities. The aerial parts of the plants, especially the leaves, have yielded most of the bioactive compounds. Most bioactivity tests involve in vitro assessments for the inhibition of the growth of tumour cell lines, and several compounds with in vitro antitumour activity have been reported. More in-depth studies to evaluate the mode of action of the compounds are necessary to pave the way for clinical trials. Ecological and taxonomical studies are needed to evaluate the flora of SA, and a plan for the conservation of wild plants should be implemented, including the management of the protection of endemic plants.
The verification of taxonomic identities is of the highest significance in the field of biological study and categorization. Morpho-molecular characterization can clarify uncertainties in distinguishing between taxonomic groups. In this study, we characterized five local taxa of the genus Cichorium using morphological and molecular markers for taxonomic authentication and probably future genetic improvement. The five Cichorium taxa grown under the Mediterranean climate using morphological traits and molecular markers showed variations. The examined taxa showed a widespread range of variations in leaf characteristics, i.e., shape, type, texture, margin, and apex and cypsela characteristics i.e., shape, color, and surface pattern. The phylogenetic tree categorized the Cichorium intybus var. intybus and C. intybus var. foliosum in a single group, whereas C. endivia var. endivia was grouped separately. However, C. endivia var. crispum and C. endivia subsp. pumilum were classified as a cluster. The recorded variance between classes using the molecular markers SCoT, ISSR, and RAPD was documented at 34.43%, 36.62%, and 40.34%, respectively. Authentication using molecular tools proved the usefulness of a dichotomous indented key, as revealed by morphological identification. The integrated methodology using morphological and molecular assessment could support improved verification and authentication of the various taxa of chicory. It seems likely that the Egyptian chicory belongs to C. endivia subsp. pumilum.
Achillea fragrantissima Forssk. (Family: Asteraceae) has been used as a natural remedy in the Arabian region for its antihyperglycemic activity. As a result of the intensive demand for this plant in folk medicinal uses, its scarcity has become problematic. This study has explored methods that produce an efficient in vitro culture protocol for the conservation of this plant as well as the enhancement of its hypoglycemic activity. A. fragrantissima cultures on Murashige and Skoog (MS) medium supplemented with 3.6 µM/L of 6-benzyl aminopurine (BAP) for a two month period resulted in maximum in vitro shoot proliferation (12.33 shoots/explant) while MS medium supplemented with 2.4 µM/L 1-naphthalene acetic acid (NAA) provided maximum in vitro adventitious root formation (2.46 roots/shoot tip explant). Callus induction was favored by leaf explants cultured on MS medium and supplemented with 3 µM/L BAP and 3 µM/L IAA media in dark conditions. Further in vivo study of some selected feedings determined that the best hypoglycemic activity was obtained in either indole-3-butyric acid (IBA)-fed plants (24%) or NAA-fed plants (22%). Both treatments enhanced insulin-like activity in STZ-treated diabetic Sprague-Dawley rats when compared with the wild plant (10%). Moreover, the IBA-fed plants showed significant antioxidant activity while the NAA-fed plants inhibited salivary alpha amylase. The framework of this study provides in vitro culture methods that can sustain the cultivation of this over-exploited A. fragrantissima plant as well as increase its antioxidant and insulin-like activities.
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