{"title":"Morphological and biochemical alterations during in vitro microrhizome formation of Curcuma caesia Roxb","authors":"Afreen Anjum, Smriti Adil, Afaque Quraishi","doi":"10.1007/s13562-024-00892-2","DOIUrl":"https://doi.org/10.1007/s13562-024-00892-2","url":null,"abstract":"<p><i>Curcuma</i> <i>caesia</i> Roxb., a critically endangered herb in the Zingiberaceae family, can be conserved through microrhizomes, which are easily transported, germinate like seeds, and are independent of seasonal variations. The current investigation attempts to induce microrhizomes of this endangered herb for conservation purpose using high concentration of sucrose. To encourage the establishment of microrhizomes, six-month-old cultures of <i>C.</i> <i>caesia</i> were transferred to Murashige and Skoog supplemented with containing 8 mg L<sup>−1</sup> benzyladenine, 8 mg L<sup>−1</sup> kinetin, 100 mg L<sup>−1</sup> citric acid, 200 mg L<sup>−1</sup> adenine sulphate, and 2 mg L<sup>−1</sup> indole-3-acetic acid (standard medium). For this, standard medium was examined with sucrose concentrations of 3%, 6%, 9%, and 12%. The standard medium with 9% sucrose showed the highest rate of microrhizome formation (now referred as microrhizome production medium, MPM). During acclimatization, the survival rate of microrhizomes exceeded 90%. The physiology behind the microrhizome formation was also evaluated using enzymatic and non-enzymatic tests on days 0, 30, and 60 after inoculation. Superoxide dismutase activity, an enzymatic defence molecule, and total soluble sugar and ascorbate content, a non-enzymatic defence molecule, both increased in the MPM microrhizomes relative to the control [shoot multiplication medium (standard medium with 3% sucrose) at day 0]. Further, protein, 2-thiobarbituric acid reactive substances, and hydrogen peroxide content also increased. The biochemical results proved that 9% sucrose in MPM induces osmotic stress which eventually led to the formation of <i>C.</i> <i>caesia</i> microrhizomes, an in vitro storage organ.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"25 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141172252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ranjeet R. Kumar, Neha Singh, Suneha Goswami, T. Vinutha, Sumer P. Singh, Gyan P. Mishra, Atul Kumar, Girish K. Jha, C. Tara Satyavathi, Shelly Praveen, Aruna Tyagi
{"title":"Hydrothermal infra-red (HT-IR): the most effective technology for enhancing the shelf-life of pearl millet flour without compromising with the nutrient density and flour quality","authors":"Ranjeet R. Kumar, Neha Singh, Suneha Goswami, T. Vinutha, Sumer P. Singh, Gyan P. Mishra, Atul Kumar, Girish K. Jha, C. Tara Satyavathi, Shelly Praveen, Aruna Tyagi","doi":"10.1007/s13562-024-00893-1","DOIUrl":"https://doi.org/10.1007/s13562-024-00893-1","url":null,"abstract":"<p>Pearl millet, considered as nutri-cereal, has better nutritional composition and quality, as compared to other cereals. Though, it is less popular due to low shelf-life of the flour. Here, we characterize the rancid behavior of three diverse genotypes of pearl millet—WGI-100 (White), Purple, and fortified Dhanshakti (complete grains and decorticated) using different quality determinants linked with shelf-life. Starch, amylose, resistant and non-resistant starch content was observed maximum in Dhanshakti, whereas amylopectin was observed maximum in <i>cv</i>. purple. The activities of carbohydrate degrading enzyme (α-/β-Amylases) were observed maximum on 6th days after milling (DAM) in <i>cv</i>. Dhanshakti. Phytic acid and micronutrients (Fe and Zn) were observed more stabilized in flour during storage. We observed gradual decrease in the storage proteins and total lipid with increase in DAM due to oxidation. Evaluation of physicochemical treatments [salt (1%), lime (1%, grains soaked for overnight), hydrothermal-infrared (HT-IR, grains steamed for 5 min followed by quick drying using IR bulbs with wavelength of 0.7–2.0 µm), kilning (live steam, quick heating), near infra-red (NIR, short wave for 5 min) and air tight aluminum pouches (50 µm thickness)] showed HT-IR to be most effective treatment in arresting the lipid hydrolysis by denaturating/aggregating the rancidity causing enzymes (lipase and lipoxygenase). We observed Dhanshakti to be better in flour quality and nutrient density, as compared to other <i>cvs</i>. HT-IR was observed to be most cost-effective and promising technology in enhancing the shelf-life of pearl millet flour.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"43 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141150706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Simone Ribeiro Lucho, Marcelo Nogueira do Amaral, Valmor João Bianchi, Lorena Almagro, María Ángeles Ferrer, Antonio Asensio Calderón, Eugenia Jacira Bolacel Braga
{"title":"Sequencing analysis and enzyme activity assay of SrUGT76G1 revealed the mechanism toward on/off production of Rebaudioside-A in stevia plants","authors":"Simone Ribeiro Lucho, Marcelo Nogueira do Amaral, Valmor João Bianchi, Lorena Almagro, María Ángeles Ferrer, Antonio Asensio Calderón, Eugenia Jacira Bolacel Braga","doi":"10.1007/s13562-024-00888-y","DOIUrl":"https://doi.org/10.1007/s13562-024-00888-y","url":null,"abstract":"<p>Stevia plants are well-known for their ability to synthesize steviol glycosides (SGs), a natural sweetener blend. The principal SGs include stevioside (STV) and Rebaudioside-A (Reb-A), with the latter exhibiting superior sweetness and organoleptic properties. UDP glucosyltransferase-76G1 (UGT76G1) is responsible for converting STV to Reb-A, determining the intensity of sweetness. A better understanding of the structure/activity of SrUGT76G1 could provide insights into Reb-A production in stevia plants. To this end, a combination of enzymatic assays and sequencing analysis was performed using two stevia genotypes (Brazilian and Spanish) with contrasting Reb-A production capabilities (off/on). Relative expression of <i>SrUGT76G1</i> gene showed remarkably higher expression (~ threefold) in Spanish samples compared to Brazilian ones. Foliar protein fractions (crude or partially purified extract) from Brazil plants were unable to convert STV into Reb-A under in vitro conditions, resulting in undetectable levels of Reb-A by HPLC. Molecular analyses revealed that the Brazilian <i>SrUGT76G1</i> gene not only presents a premature stop codon, resulting in the absence of PSPG motif responsible for the binding of glycosyl groups, but also exhibits mutations affecting key amino acid residues in the acceptor-binding pocket. These alterations provide a plausible explanation for the Brazilian protein inability to catalyze the transformation of STV into Reb-A.</p><h3 data-test=\"abstract-sub-heading\">Graphical abstract</h3>\u0000","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"29 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140926868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tapas Kumer Hore, C. H. Balachiranjeevi, Mary Ann Inabangan-Asilo, C. A. Deepak, Alvin D. Palanog, Jose E. Hernandez, Glenn B. Gregorio, Teresita U. Dalisay, Maria Genaleen Q. Diaz, Roberto Fritsche Neto, Md. Abdul Kader, Partha Sarathi Biswas, B. P. Mallikarjuna Swamy
{"title":"Genomic prediction and QTL analysis for grain Zn content and yield in Aus-derived rice populations","authors":"Tapas Kumer Hore, C. H. Balachiranjeevi, Mary Ann Inabangan-Asilo, C. A. Deepak, Alvin D. Palanog, Jose E. Hernandez, Glenn B. Gregorio, Teresita U. Dalisay, Maria Genaleen Q. Diaz, Roberto Fritsche Neto, Md. Abdul Kader, Partha Sarathi Biswas, B. P. Mallikarjuna Swamy","doi":"10.1007/s13562-024-00886-0","DOIUrl":"https://doi.org/10.1007/s13562-024-00886-0","url":null,"abstract":"<p>Zinc (Zn) biofortification of rice can address Zn malnutrition in Asia. Identification and introgression of QTLs for grain Zn content and yield (YLD) can improve the efficiency of rice Zn biofortification. In four rice populations we detected 56 QTLs for seven traits by inclusive composite interval mapping (ICIM), and 16 QTLs for two traits (YLD and Zn) by association mapping. The phenotypic variance (PV) varied from 4.5% (<i>qPN</i><sub><i>4.1</i></sub>) to 31.7% (<i>qPH</i><sub><i>1.1</i></sub>). <i>qDF</i><sub><i>1.1</i></sub>, <i>qDF</i><sub><i>7.2</i></sub>, <i>qDF</i><sub><i>8.1</i></sub>, <i>qPH</i><sub><i>1.1</i></sub>, <i>qPH</i><sub><i>7.1</i></sub>, <i>qPL</i><sub><i>1.2</i></sub>, <i>qPL</i><sub><i>9.1,</i></sub><i> qZn</i><sub><i>5.1</i></sub>, <i>qZn</i><sub><i>5.2</i></sub>, <i>qZn</i><sub><i>6.1</i></sub> and <i>qZn</i><sub><i>7.1</i></sub> were identified in both dry and wet seasons; <i>qZn</i><sub><i>5.1</i></sub><i>, qZn</i><sub><i>5.2</i></sub>, <i>qZn</i><sub><i>5.3,</i></sub><i> qZn</i><sub><i>6.2,</i></sub><i> qZn</i><sub><i>7.1</i></sub> and <i>qYLD</i><sub><i>1.2</i></sub> were detected by both ICIM and association mapping. <i>qZn</i><sub><i>7.1</i></sub> had the highest PV (17.8%) and additive effect (2.5 ppm). Epistasis and QTL co-locations were also observed for different traits. The multi-trait genomic prediction values were 0.24 and 0.16 for YLD and Zn respectively. <i>qZn</i><sub><i>6.2</i></sub> was co-located with a gene (<i>OsHMA2</i>) involved in Zn transport. These results are useful for Zn biofortificatiton of rice.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"37 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140926871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Induction of new allelic variant of AhFAD2B gene in peanut cultivar, GG20 through CRISPR/Cas9-mediated mutagenesis","authors":"Riddhi H. Rajyaguru, Rukam Singh Tomar","doi":"10.1007/s13562-024-00887-z","DOIUrl":"https://doi.org/10.1007/s13562-024-00887-z","url":null,"abstract":"<p>The ratio of oleic acid to linoleic acid (O/L) is crucial for determining the shelf life of peanut oil. In peanuts, the expression of the Fatty Acid Desaturase 2 (FAD2) enzyme, which converts oleic acid to linoleic acid, is regulated by two homeologous genes called <i>AhFAD2A</i> and <i>AhFAD2B</i>. It has been observed that the Indian peanut cultivar GG20 does not possess natural mutations in the <i>AhFAD2B</i> gene. We successfully introduced a construct called CRISPR_GG20_AhFAD2B into the de-embryonated cotyledon of the GG20 plant. The purpose of this construct was to utilize the CRISPR-Cas9 gene editing technology to modify the <i>AhFAD2B</i> gene. Genotyping analysis of the plants that were potentially transformed with the construct confirmed that the target-specific editing had occurred in the <i>AhFAD2B</i> gene. Subsequently, the edited GG20 plants were phenotypically evaluated to assess the fatty acid composition in the peanut kernels. The results showed a notable increase in the O/L ratio, which rose from 3.1 in the control to 7.3 in the edited GG20 plants. This implies that the gene editing technique successfully enhanced the oleic acid to linoleic acid ratio in the peanuts, potentially improving the shelf life of the resulting peanut oil.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"11 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140883656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Arsenic tolerance unveiled in Arabidopsis: CPK23 and PHT1;1 alliance","authors":"Jawahar Singh, Vishnu Mishra, Vishal Varshney","doi":"10.1007/s13562-024-00885-1","DOIUrl":"https://doi.org/10.1007/s13562-024-00885-1","url":null,"abstract":"<p>Arsenate As(V), characterized as a metalloid with heavy metal properties, is prevalent in various environments. The consumption of food derived from plants contaminated with arsenate contributes significantly to human exposure to arsenic, posing potential health risks. However, the mechanisms governing plant responses to arsenate stress and the regulation of relevant transporter functions remain inadequately understood. Recently, Wang and co-workers, identified a calcium-dependent protein kinase, specifically CALCIUM-DEPENDENT PROTEIN KINASE 23 (CPK23), which shows interaction with the plasma membrane As(V)/Pi transporter PHOSPHATE TRANSPORTER 1;1 (PHT1;1) to channelize the Ca<sup>2+</sup> signal in <i>Arabidopsis</i> roots under As(V) stress. The authors observed that <i>cpk23</i> mutants showed increased sensitivity, whereas the overexpression of <i>CPK23</i> resulted in enhanced tolerance under As(V) stress conferring role in As stress. Moreover, it has been demonstrated that CPK23 phosphorylates PHT1.1 at the Ser<sup>514</sup> (S<sup>514</sup>) site is crucial for its function and proper localization under As(V) stress. Thus, this commentary offers valuable insights into the induction of a notable Ca<sup>2+</sup> signal in <i>Arabidopsis</i> roots under As(V) stress that could guide crop bioengineering efforts aimed at addressing arsenate pollution in soil with targeted strategies.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"39 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140635727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Harsha Vardhan Rayudu Jamedar, Prasad Gandham, Prasad Bajaj, Srinivas Thati, V. Srinivasa Rao, Rajeev K. Varshney, Rachit K. Saxena
{"title":"Identification of superior haplotypes for seed protein content in pigeonpea (Cajanus cajan L.)","authors":"Harsha Vardhan Rayudu Jamedar, Prasad Gandham, Prasad Bajaj, Srinivas Thati, V. Srinivasa Rao, Rajeev K. Varshney, Rachit K. Saxena","doi":"10.1007/s13562-024-00884-2","DOIUrl":"https://doi.org/10.1007/s13562-024-00884-2","url":null,"abstract":"<p>Pigeonpea (<i>Cajanus cajan</i> L.) is an important source of quality dietary protein for over a billion people worldwide. The seeds of pigeonpea contain approximately 20–22% digestible protein, which makes it a valuable source of nutrition. Despite this, there has been little attention paid to enhancing the seed protein content (SPC) through genetic means. Recently, high-protein germplasm lines have been discovered in the secondary gene pool, which presents an opportunity to breed for high-protein cultivars. To accelerate the breeding process, genomics-assisted breeding (GAB) can be utilized. In this context, this study identified the superior haplotypes for the genes that control SPC in pigeonpea. Whole-genome re-sequencing (WGRS) data from 344 pigeonpea genotypes were analyzed to identify the superior haplotypes for 57 SPC governing genes. A total of 231 haplotypes in 43 candidate genes were identified, and haplo-pheno analysis was performed to provide superior haplotypes for 10 genes. The identification of superior haplotypes and genotypes will greatly facilitate the development of protein-rich pigeonpea seeds through the application of haplotype-based breeding (HBB).</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"27 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140612176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zeinab Poormohammad, Sara Shahrokhi, Amin Abedi, Reza H. Sajedi, M. Mehdi Sohani
{"title":"Enhanced drought and salt tolerance of Arabidopsis thaliana by ectopic expression of the molecular chaperone artemin from Artemia urmiana","authors":"Zeinab Poormohammad, Sara Shahrokhi, Amin Abedi, Reza H. Sajedi, M. Mehdi Sohani","doi":"10.1007/s13562-024-00877-1","DOIUrl":"https://doi.org/10.1007/s13562-024-00877-1","url":null,"abstract":"<p>Due to the resistance of <i>Artemia urmiana</i> to salt stress, researchers have isolated and investigated Artemin, the most prevalent protein within the cyst of this aquatic species. In vitro studies have revealed Artemin's role as a molecular chaperone, effectively engaging with the hydrophobic surfaces of unfolded and/or partially folded proteins. In light of Artemin's established functional significance, its encoding gene has been successfully introduced into mammalian cells; however, no published research has elucidated its potential role within plant cells. In the current investigation, the artemin gene was successfully cloned into the <i>pPZPY122</i> plant vector and subsequently introduced into <i>Arabidopsis thaliana</i> plants. The T<sub>3</sub> homozygote transgenic plants (<i>art</i>) were then subjected to a series of environmental stresses, including heat, salt (NaCl) and drought (Mannitol). To assess the mutant's resilience to these stresses, their seed germination indices were evaluated. The<i> art</i> line demonstrated a higher degree of tolerance towards the abiotic stresses. A comparative analysis revealed that ascorbate peroxidase activity, catalase activity, and proline content exhibited significantly enhanced levels in some NaCl-treated <i>art</i> plants compared to their counterparts in Col-0. Regarding the expression of the genes in the SOS pathway, it was found that <i>SOS1</i> is significantly upregulated under NaCl treatment in the <i>art</i> mutant. Conversely, under normal growth conditions, the morphology and growth of transgenics remained indistinguishable from those of wild-type plants.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"39 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140147219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Spoorti S. Gandhadmath, S. Vidyashree, Rakeshkumar Choudhary, Babu N. Motagi, Ravikumar Hosamani, Pushpa Bharati, Spurthi N. Nayak
{"title":"Genetic diversity assessment of groundnut (Arachis hypogaea L.) for polyphenol content and antioxidant activity: unlocking the nutritional potential","authors":"Spoorti S. Gandhadmath, S. Vidyashree, Rakeshkumar Choudhary, Babu N. Motagi, Ravikumar Hosamani, Pushpa Bharati, Spurthi N. Nayak","doi":"10.1007/s13562-024-00882-4","DOIUrl":"https://doi.org/10.1007/s13562-024-00882-4","url":null,"abstract":"<p>Groundnut is a rich source of several nutritional components including polyphenols and antioxidants that offer various health benefits. In this regard, the mini core accessions along with elite varieties of groundnut were used to assess genetic diversity using AhTE markers. The phenotypic observation on eight morphological, six productivity and two nutraceutical traits [total polyphenol content (TPC) and total antioxidant activity (AOA)] were studied. Correlation studies revealed a significant positive correlation between TPC and AOA. The degree of divergence with respect to nutraceutical content among the genotypes of mini core collection and elite cultivars is evident from the current study. The STRUCTURE analyses revealed the grouping of genotypes into three distinct clusters mainly based on the botanical types of groundnut. The analysis of molecular variance displayed maximum variation (97%) within the individuals of subpopulations and minimum variation (3%) among subpopulations. Principal component analysis exhibited 3 principal components that accounted for 42.17% of the total variation. Association mapping study indicated 20 significant marker-trait associations at 1% probability. The study has also identified significant marker-trait associations with nutraceutical properties of groundnut, AhTE0465-TPC and AhTE0381- AOA with explained phenotypic variation of 7.45% and 6.85% respectively. These markers were found to have positions at A02 and A09 with bHLH DNA-binding family protein and chitinase putative functions respectively. The markers associated with TPC and AOA can further be utilized for genomics-assisted breeding for nutritionally rich cultivars in groundnut.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"68 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140147224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jeffrey I Lappay, Benilda C Sanchez-Gan, Michelle E Abadingo
{"title":"Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy.","authors":"Jeffrey I Lappay, Benilda C Sanchez-Gan, Michelle E Abadingo","doi":"10.47895/amp.vi0.3013","DOIUrl":"10.47895/amp.vi0.3013","url":null,"abstract":"<p><p>Electrical status epilepticus during sleep (ESES) is an electrographic pattern associated with specific genetic disorders, brain malformations, and use of some antiseizure medications. This case report aims to present the management of ESES in Sotos syndrome (SoS) on carbamazepine. A nine-year-old Filipino male with clinical features suggestive of overgrowth syndrome presented with febrile seizure at one year old. Cranial imaging showed cavum septum pellucidum, corpus callosal dysgenesis, and ventriculomegaly. He was on carbamazepine monotherapy starting at three years old. A near continuous diffuse spike-wave discharges in slow wave sleep was recorded at nine years old hence shifted to valproic acid. Follow-up study showed focal epileptiform discharges during sleep with disappearance of ESES. Next generation sequencing tested positive for rare nonsense mutation of nuclear receptor binding set-domain protein 1 confirming the diagnosis of SoS. Advanced molecular genetics contributed to determination of ESES etiologies. To date, this is the first documented case of SoS developing ESES. Whether an inherent genetic predisposition or drug-induced, we recommend the avoidance of carbamazepine and use of valproic acid as first-line therapy.</p>","PeriodicalId":16835,"journal":{"name":"Journal of Plant Biochemistry and Biotechnology","volume":"29 1","pages":"83-87"},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11219534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70452246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}