The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival

BACKGROUND: Co-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients. Methods and FINDINGS: We studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A , HMIP1/2 , OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%). Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes). Among patients, 37.3% ( n = 60) had at least one 3.7 kb deletion, compared to 10.9% ( n = 6) among HbAA controls (p<0.001). Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01)]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001)], as well as median WBC counts [13.2, 10.5 and 9.8×10 9 /L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038). CONCLUSION: The co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the higher proportion of α-thalassemia among patients than controls

Transcriptomic changes associated with husk scald incidence on pomegranate fruit peel during cold storage

CITATION: Belay, Z. A. et al. 2020. Transcriptomic changes associated with husk scald incidence on pomegranate fruit peel during cold storage. Food Research International, 135. doi:10.1016/j.foodres.2020.109285The original publication is available at https://www.sciencedirect.com/journal/food-research-internationalPomegranate fruit is valued for its social, economic, aesthetic and health benefits. The fruit rapidly loses quality after harvest due to continued metabolic responses and physiological disorders under sub-optimal conditions. The incidence of physiological disorder such as husk scald manifests during storage and commercial shipping, which affects the appearance and limits marketability. Despite the importance of pomegranate husk scald, little information is available about the origin and molecular mechanisms. Therefore, the aim of this study was to investigate the scald incidence of pomegranate fruit at molecular level using RNA-Seq (Ion Proton™ Next Generation Sequencing) by analyzing peel transcriptomic changes. The RNA-seq analysis generated 98,441,278 raw reads. 652 Differentially Expressed Genes (DEGs) with a fold change of > |2|, a p value ≤ 0.05 and a false discovery rate (FDR) of <0.05 were identified between healthy and scald fruit peels. An analysis of the gene ontologies of these DEGs revealed the 432 genes were assigned with molecular functions, 272 as cellular components and 205 as part of biological processes. In this analysis, genes (Pgr023188 and Pgr025081) that encode uncharacterized protein and gene (Pgr007593) that encodes glycosyltransferase showed significantly highest fold changes. Genes (Pgr003448, Pgr006024 and Pgr023696) involved in various iron binding and oxidoreductase activities were significantly suppressed. This is the first transcriptome analysis of pomegranate fruit peel related to husk scald development. Results obtained from this study will add valuable information on husk scald related changes on pomegranate fruit at genomic level and provide insight on other related physiological disorders.https://www.sciencedirect.com/science/article/pii/S0963996920303100?via%3DihubPublishers versio

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10

Background. A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment.Objective. To delineate the molecular basis for the condition.Methods. Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic groups in this population.Results. Following polymerase chain reaction amplification and direct cycle sequencing, FKBP10 mutations were identified in 45.1% (41/91) OI-3-affected persons. The homozygous FKBP10 c.831dupC frameshift mutation was confirmed in 35 affected individuals in the study cohort. Haplotype analysis suggests that this mutation is identical among these OI-3-affected persons by descent, thereby confirming that they had a common ancestor. Compound heterozygosity of this founder mutation was observed, in combination with three different deleterious FKBP10 mutations, in six additional persons in the cohort. Four of these individuals had the c.831delC mutation.Conclusion. The burden of the disorder, both in frequency and severity, warrants the establishment of a dedicated service for molecular diagnostic confirmation and genetic management of persons and families with OI in southern Africa

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10

Background. A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment. Objective. To delineate the molecular basis for the condition. Methods. Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic groups in this population. Results. Following polymerase chain reaction amplification and direct cycle sequencing, FKBP10 mutations were identified in 45.1% (41/91) OI-3-affected persons. The homozygous FKBP10 c.831dupC frameshift mutation was confirmed in 35 affected individuals in the study cohort. Haplotype analysis suggests that this mutation is identical among these OI-3-affected persons by descent, thereby confirming that they had a common ancestor. Compound heterozygosity of this founder mutation was observed, in combination with three different deleterious FKBP10 mutations, in six additional persons in the cohort. Four of these individuals had the c.831delC mutation. Conclusion. The burden of the disorder, both in frequency and severity, warrants the establishment of a dedicated service for molecular diagnostic confirmation and genetic management of persons and families with OI in southern Africa

Mechanism(s) of Glyphosate Resistance in a Selected Plantago lanceolata (L.) R Biotype

In 2003, a glyphosate-resistant plantago (Plantago lanceolata L.) population located in the Robertson district of South Africa was subjected to different glyphosate dosages and the highest dosage (7200 g a.e. ha−1) gave no acceptable levels of control. Here we reconfirm resistance and investigate the mechanism of glyphosate resistance. Dose-response curves indicated that the glyphosate dosage rate causing 50% survival (LD50) for the resistant (R) biotype is 43 times greater than for the susceptible (S) biotype, i.e., 43-fold resistant to glyphosate. Investigation into the molecular mechanism of plantago showed shikimate accumulation of the R biotype was lower than that of the S biotype. The reported 31P and 13C nuclear magnetic resonance (NMR) spectra show rapid glyphosate translocation into the young untreated leaves of the S biotype. No glyphosate translocation was observed in the R biotype. A point mutation in the 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS) gene, resulting in an amino acid substitution was also observed, indicating two unique glyphosate resistance mechanisms within the R biotype. The rapid evolution of glyphosate-resistant weeds threatens the usage of the world’s most important herbicide (glyphosate), which is essential in world food production and further limits grower options for weed control. New weed management strategies will be necessary to combat plantago R biotypes

Co-inheritance of SCA-alpha thalassemia and of clinical events.

<p>Co-inheritance of SCA-alpha thalassemia and of clinical events.</p

Co-inheritance of α-thalassemia among patients and controls.

<p><b>Panel A</b> displays a much higher prevalence of 3.7α-globin gene deletions among patients compared to unaffected controls [HbAA and HbSS combined (p = 0.003)]. This difference was mostly driven by a much lower proportion of 3.7 kb α-globin gene deletions among HbAA controls. <b>Panel B</b> displays the allele frequencies of the 3.7 kb α-globin gene deletions among patient and control. The frequencies were 22% among patients and 11.8% among controls (HbAS and HbAA combined) (p = 0.006). HbAS controls had more 3.7 kb α-globin gene deletions than HbAA controls (p = 0.02).</p

Co-inheritance of SCA and α-thalassemia and hematological indices.

<p>Co-inheritance of SCA and α-thalassemia and hematological indices.</p