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  • 1
    In: Molecular Genetics & Genomic Medicine, Wiley, Vol. 8, No. 11 ( 2020-11)
    Abstract: 3‐Hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase 2 gene ( HMGCS2 ) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid‐derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are responsible for HMG‐CoA synthase deficiency (HMGCSD). The aim of present study was to investigate the association of mutation in the HMGCS2 gene with HMGCSD in a patient with atypical symptoms. Methods The clinical and genetic features of an 8‐months‐old girl with HMGCSD were evaluated. Molecular genetic testing was conducted using whole‐exome sequencing (WES) in order to identify potential disease‐causing mutation. The WES finding was confirmed by the polymerase chain reaction (PCR) amplification of the target sequence carried out for the patient and her parents. The PCR products were subjected to direct sequencing using forward and reverse specific primers corresponding to the HMGCS2 gene. Results A novel homozygous missense mutation (c.266G 〉 A p.Gly89Asp) was detected in the HMGCS2 gene. Sanger sequencing along with co‐segregation analysis of all family members confirmed this novel pathogenic germline mutation. The mutant gene was found to be pathogenic by bioinformatics analysis. Conclusion To our best knowledge, this is the first report of HMGCSD in Iran which would expand our knowledge about the mutational spectrum of the HMGCS2 gene and the phenotype variations of the disease.
    Type of Medium: Online Resource
    ISSN: 2324-9269 , 2324-9269
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2734884-2
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  • 2
    In: Food Science & Nutrition, Wiley, Vol. 10, No. 11 ( 2022-11), p. 3905-3919
    Abstract: Eryngo ( Eryngium caucasicum Trautv) a widespread species of the Apiaceae reveals high nutritional value and therapeutic properties due to the significant content of biologically active metabolites such as essential oils, phenolic compounds, and flavonoids. The present study was performed to evaluate the morphological and biochemical variability and antioxidant properties of naturally grown populations of eryngo. One‐way ANOVA showed significant ( p   〈  .01) differences in the majority of parameters measured among the studied populations. The range of fresh weight was from 1.3 to 12.0 g/plant, while dry weight varied from 0.01 to 6.0 g/plant. The highest variation was observed for essential oil yield (CV = 205.32%) followed by essential oil content (CV = 126.23%) and chicoric acid content (CV = 71.18%). Total phenolics content varied from 8.85 to 88.15 mg GAE/g extract. Total flavonoids value ranged from 5.41 to 134.40 mg QE/g extract. Rosmarinic acid and chicoric acid contents varied from 0.118–1.234 and 0.014–0.597 μg/g DW, respectively. DPPH free radical scavenging activity varied from 76.12 to 513.5 μg/mL, while it ranged from 156.7 to 477.1 μg/mL with the ferrous ions (Fe 2+ ) chelating assay. Rosmarinic acid and chicoric acid showed a significant and positive correlation ( r 0.01  = 0.81 and r 0.05  = 0.40) with total phenolics, respectively. The Ward dendrogram analysis revealed two different clusters based on the parameters measured, confirming high morpho‐phytochemical variability among the individuals and populations. Principal component analysis (PCA) revealed eight PCs which contributed to 99.97% of the overall variance, and leaf length, essential oil content, and antioxidant activity in terms of DPPH and Fe 2+ chelating techniques were the most effective attributes for characterizing and selecting the studied population. Based on the traits related to vegetative yield and antioxidant properties, eight individuals from two populations were superior for breeding and/or farming programs.
    Type of Medium: Online Resource
    ISSN: 2048-7177 , 2048-7177
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2703010-6
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