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Background: Turner syndrome (TS) is a genetic disorder found only in females who are completely or partially missing an X chromosome. It is rarely inherited from parent to offspring and is not reported to be associated with any causal gene. In addition, familial forms are less frequent than sporadic ones. A Tunisian family with four girls affected by TS showed an unusual association with congenital hypopituitarism among three of them. Objectives: Conduct a genetic investigation by exploring the PROP1 gene genomic sequence to identify a possible causal variant explaining the simultaneous presence of the TS and the congenital hypopituitarism in the family. Methods: The coding regions of the gene and their flanking introns are Sanger sequenced among four sisters and their mother and compared to the reference sequences. Results: Sequences analysis showed the presence of the PROP1 gene mutation p.Arg73Cys (rs121917843), the most frequent Maghrebian defect responsible for non-syndromic combined pituitary hormone deficiency. The girls with both TS and congenital hypopituitarism were homozygous. However, the sister who was affected by TS only and their healthy mother were heterozygous. Conclusion: Our findings showed that the uncommon association between TS and congenital hypopituitarism is a random event caused by the high frequency of the PROP1 p.Arg73Cys mutation and the high level of consanguinity in the Tunisian population.

Determination of pork DNA is essential to avoid the serious allergens imposed by it as well as for halal authentication for certain community. The needed sensor should be able to identify the pork DNA in rapid way and sensitive to ultra-low molarity detection. In this work we developed a surface enhanced Raman spectroscopy sensor (SERS) using silver nanoparticles (AgNPs) on Si matrix. A deep investigation of the effect of the laser wavelength on the sensing efficiency has been performed. Wavelength dependent sensing mechanisms are deliberately studied in the current research. Further the selectivity of sensor towards Pork DNA discrimination is exhibited with Chicken DNA analysis. The developed SERS sensor identifies the Pork DNA down to 13.6 fg/ μL proving its excellent sensitivity. The statistical outfit studies with regard to the developed sensor shows the low values of RSD (∼3%) adding advantage of the developed SERS sensor biosensor. The SERS sensor will definitely serve to be an excellent fast, selective and sensitive tool for onsite screening of meat products to cease the adulteration.

Abstract Introduction Mesenchymal stem cells (MSCs) isolated from bone marrow have different developmental origins, including neural crest. MSCs can differentiate into neural progenitor-like cells (NPCs) under the influence of bFGF and EGF. NPCs can terminally differentiate into neurons that express beta-III-tubulin and elicit action potential. The main aim of the study was to identify key genetic markers involved in differentiation of MSCs into NPCs through transcriptomic analysis. Method Total RNA was isolated from MSCs and MSCs-derived NPCs followed by cDNA library construction for transcriptomic analysis. Sample libraries that passed the quality and quantity assessments were subjected to high throughput mRNA sequencing using NextSeq®500. Differential gene expression analysis was performed using the DESeq2 R package with MSC samples being a reference group. The expression of eight differentially regulated genes was counter validated using real-time PCR. Results In total, of the 3,252 differentially regulated genes between MSCs and NPCs with two or more folds, 1,771 were upregulated genes, whereas 1,481 were downregulated in NPCs. Amongst these differential genes, 104 transcription factors were upregulated, and 45 were downregulated in NPCs. Neurogenesis related genes were upregulated in NPCs and the main non-redundant gene ontology (GO) terms enriched in NPCs were the autonomic nervous system, cell surface receptor signalling pathways), extracellular structure organisation, and programmed cell death. The main non-redundant GO terms enriched in MSCs included cytoskeleton organisation cytoskeleton structural constituent, mitotic cell cycle), and the mitotic cell cycle process Gene set enrichment analysis also confirmed cell cycle regulated pathways as well as Biocarta integrin pathway were upregulated in MSCs. Transcription factors enrichment analysis by ChEA3 revealed Foxs1 and HEYL, amongst the top five transcription factors, inhibits and enhances, respectively, the NPCs differentiation of MSCs. Conclusions The vast differences in the transcriptomic profiles between NPCs and MSCs revealed a set of markers that can identify the differentiation stage of NPCs as well as provide new targets to enhance MSCs differentiation into NPCs.

Introduction/AimsMaturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabetes with 14 different genetic forms. MODY-related mutations are rarely found in the Tunisian population. Here, we explored MODY related genes sequences among seventeen unrelated Tunisian probands qualifying the MODY clinical criteria.Materials and MethodsThe GCK and HNF1A genes were systematically analyzed by direct sequencing in all probands. Then, clinical exome sequencing of 4,813 genes was performed on three unrelated patients. Among them, 130 genes have been reported to be involved in the regulation of glucose metabolism, β-cell development, differentiation and function. All identified variants were analyzed according to their frequencies in the GnomAD database and validated by direct sequencing.ResultsWe identified the previously reported GCK mutation (rs1085307455) in one patient. The clinical features of the MODY2 proband were similar to previous reports. In this study, we revealed rare and novel alterations in GCK (rs780806456) and ABCC8 (rs201499958) genes with uncertain significance. We also found two likely benign alterations in HNF1A (rs1800574) and KLF11 (rs35927125) genes with minor allele frequencies similar to those depicted in public databases. No pathogenic variants have been identified through clinical exome analysis.ConclusionsThe most appropriate patients were selected, following a strict clinical screening approach, for genetic testing. However, the known MODY1-13 genes could not explain most of the Tunisian MODY cases, suggesting the involvement of unidentified genes in the majority of Tunisian affected families.

Fighting food industry standard violations has become an important stake especially in developing countries. In this work, different common DNA extraction protocols, namely NaOH, Phenol Chloroform Isoamyl alcohol, CTAB, Chloroform and the commercialized DNeasy blood and tissue kit were tested and compared for turkey salami genomic authentication in mitochondrial genes species detection by Polymerase Chain Reaction (PCR). The obtained results proved that a protocol based on NaOH after an advanced grinding step was the most adequate alternative in terms of simplicity, rapidity and detection threshold even in swabs. The selected protocol encourages wide range cost-effective routine authentications.

IntroductionThe COVID-19 pandemic represented one of the most significant challenges to researchers and healthcare providers. Several factors determine the disease severity, whereas none alone can explain the tremendous variability. The Single nucleotide variants (SNVs) in angiotensin-converting enzyme-2 (ACE2) and transmembrane serine protease type-2 (TMPRSS2) genes affect the virus entry and are considered possible risk factors for COVID-19.MethodsWe compiled a panel of gene variants from both genes and used in-silico analysis to predict their significance. We performed biological validation to assess their capacity to alter the ACE2 interaction with the virus spike protein. Subsequently, we conducted a retrospective comparative genome analysis on those variants in the Emirati patients with different disease severity (total of 96) along with 69 healthy control subjects.ResultsOur results showed that the Emirati population lacks the variants that were previously reported as associated with disease severity, whereas a new variant in ACE2 “Chr X:g.15584534” was associated with disease severity specifically among female patients. In-silico analysis revealed that the new variant can determine the ACE2 gene transcription. Several cytokines (GM-CSF and IL-6) and chemokines (MCP-1/CCL2, IL-8/CXCL8, and IP-10/CXCL10) were markedly increased in COVID-19 patients with a significant correlation with disease severity. The newly reported genetic variant of ACE2 showed a positive correlation with CD40L, IL-1β, IL-2, IL-15, and IL-17A in COVID-19 patients.ConclusionWhereas COVID-19 represents now a past pandemic, our study underscores the importance of genetic factors specific to a population, which can influence both the susceptibility to viral infections and the level of severity; subsequently expected required preparedness in different areas of the world.