Ola Ali

Al-Azhar University

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Mona K. Mekkawy

National Research Centre

Heba Hassan

National Research Centre

Yehia Z. Gad

National Research Centre

Mona Essawi

National Research Centre

Mai M. Anwar

National Organization for Drug Control and Research

S. Elsayed

Damanhour University

Inas Mazen

National Research Centre

Rehab A. Al- Azzouny

National Research Centre

Nadia A. Eltablawy

National Organization for Drug Control and Research

Amr S. Gouda

National Research Centre

Cooperative Institutions

National Research Centre

National Water Research Center

Al-Azhar University

Cairo University

Agricultural Genetic Engineering Research Institute

Ain Shams University

Al Azhar University

Charles University

Egyptian Atomic Energy Authority

National Organization for Drug Control and Research

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N- and O-glycan analysis for the detection of glycosylation disorders

Egyptian Journal of Medical Human Genetics (2021)

Amr S. Gouda Azza Fahmy Elbaz Thierry Dupré Ola Ali Maha S. Zaki

Abstract Background Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinical presentation is very characteristic for all types of CDGs; symptoms include severe neurological manifestations that usually start in the neonatal period and cause aggressive irreversible neurological damage. These disorders are usually misdiagnosed as other non-inheritable disorders or remain undiagnosed for a long time, leading to severe neurological complications. The diagnosis of CDGs is quite tedious due to their diverse clinical presentation. In Egypt, there is still no available screening programme to detect CDGs in patients at a young age. Therefore, the need for a reliable rapid test that uses a small sample size has emerged. This study included 50 suspected subjects and 50 healthy controls with matching age and sex. Western blotting and liquid chromatography-tandem mass spectrometry were used for the analysis of N- and O-glycans, respectively. Results The study detected 9 patients with hypoglycosylation (18%). Eight of the nine patients showed abnormal separation of N-glycoproteins using Western blotting indicative of reduced glycosylation (16% of the study subjects and 89% of the subjects with hypoglycosylation). Only one of the nine patients showed a decreased level of sialyl-T-antigen with a normal T-antigen level leading to an increased T/ST ratio (2% of study subjects and 11% of the subjects with hypoglycosylation). Conclusion Although N- and O-glycan analysis did not determine the underlying type of CDG, it successfully detected hypoglycosylation in 9 clinically suspected patients (18% of the studied subjects). All detected CDG cases were confirmed by molecular analysis results of mutations causing 4 different types of congenital disorders of glycosylation.

10.1186/s43042-020-00117-w

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Enzyme based diagnosis of type 1 and 2 neuronal ceroid lipofuscinoses

Azhar International Journal of Pharmaceutical and Medical Sciences/Azhar International Journal of Pharmaceutical and Medical Sciences (2021)

Amira Radwan Ekram Fateen Amr S. Gouda Maha S. Zaki Ola Ali

The study aimed to diagnose type 1 and 2 of neuronal ceroid lipofuscinoses (NCLs) using leukocytes and dried blood spot samples.A hundred subjects divided equally to patient and control groups of matching age and sex were included.The patient group was subclassified into two subgroups according to age.Measurement of palmitoyl protein thioesterase1 (PPT1) and tripeptidyl peptidase1 (TPP1) enzymes were conducted in both leukocytes and dried blood spot samples.Chitotriosidase enzyme activity was measured in plasma samples and was found to be normal in 10 cases and increased in 2 cases.Based on PPT1 and TPP1 enzymes activity, 12 cases were diagnosed from the 50 investigated patients and distributed equally between the 2 types.In cases with NCL 1, the Mean ± SD PPT1enzyme activity was decreased to 0.02 ± 0.0074 nmol/h/mg protein in leukocytes samples when compared to 3.4 ± 2.5 nmol/h /mg protein in controls while the activity was decreased to 0.063±0.09nmol/spot in dried blood spot samples when compared to 0.88±0.32nmol/spot in controls.In cases, with NCL2 the Mean ± SD TPP1 enzyme activity was decreased to 0.023±0.014nmol/h/mg protein in leukocytes when compared to 0.92±0.84nmol/h /mg protein in controls.While the activity was decreased to 0.04±0.035nmol/spot in dried blood spot samples when compared to 0.394±0.17nmol/spot in controls.The study concluded that dried blood spot sample method is satisfactory for confirming or excluding suspected patients while leukocyte samples are needed to confirm the positive or unclear results.

10.21608/aijpms.2021.60825.1044

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Urinary thrombomodulin is down regulated in schistosomiasis associated bladder cancer

Journal of Genetic Engineering and Biotechnology (2012)

Lobna Refaat Ola Ali Aliaa A. Hassan Ayman M. Metwally

Thrombomodulin (TM) is a surface glycoprotein and expressed in many cancers. The aim of the present study was to detect the expression levels of TM in plasma and urine of bladder cancer patients and to compare these levels to the clinicopathological data of the patients as well as the ploidy status of their exfoliated urinary cells. We studied the levels of TM in plasma and urine samples of 57 bladder cancer patients and 10 controls using the (ELISA) assay and compared the results to the ploidy status of the cells taken from the patents urine samples as well as their clinicopathological profile. Urinary TM was significantly down regulated while plasma TM was significantly up regulated in bladder cancer patients. Plasma TM was significantly higher in SCC than TCC patients. The sensitivity and specificity of urinary TM were 90% and 86%, respectively. While the sensitivity and specificity of plasma TM were 76% and 80%, respectively. Urinary TM is significantly down regulated, while plasma TM is significantly up regulated in bladder cancer as compared to the control group. Urinary TM has superior sensitivity and specificity over plasma TM. Urinary TM could be used as a predictive marker in bladder cancer. Further studies are needed to detect the prognosis significance of thrombomodulin in schistosomiasis associated bladder cancer.

Thrombomodulin

10.1016/j.jgeb.2012.04.003

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AB030. Study of bone turnover markers and treatment monitoring in osteogenesis imperfecta

Annals of Translational Medicine (2017)

Amr S. Gouda Samia A. Temtamy Ola Ali Walaa Nazim Mona Aglan

Background: Osteogenesis imperfecta (OI), the most prevalent heritable disorders of bone, results from mutations involving several genes responsible for the synthesis or intracellular processing of type I collagen. Bisphosphonates are potent antiresorptive agents, decreasing the incidence of fractures and pain, while increasing energy levels and bone mineral density. Methods: The study included 26 OI patients and 30 controls. Samples were collected from patients at baseline, 6 months and 1 year from bisphosphonate treatment onset. Samples were subjected to biochemical measurements of serum calcium, inorganic phosphorus, parathyroid hormone, 25(OH)vitamin D, 1,25(OH)2vitamin D, bone formation markers; osteocalcin and procollagen type I N-telopeptide (P1NP) and type I collagen degradation markers; urinary type I collagen helical peptide α1(I), N-telopeptide, non-isomerized C-telopeptide, β-isomerized C-telopeptide, pyridinoline and deoxypyridinoline. Results: Patients were classified according to their clinical severity into three groups; mild, moderate and severe. No significant difference was observed for the biochemical measurements at different time points in all groups of patients and controls, except parathyroid hormone. All bone formation markers and type I collagen degradation markers showed significant differences at different time points in different patient groups and controls. No correlation was detected between the mode of inheritance and any parameter at any time point. Molecular data were available in 9 patients. Variations in some markers were observed in patients with SERPINF1 and CRTAP gene mutations. Conclusions: The clinical and genetic heterogeneity of OI were reconfirmed as patients with the same mutated gene showed different clinical severity. Bone formation markers and type I collagen degradation markers are valuable markers for monitoring the effect of bisphosphonate treatment in different clinical groups of patients. However, P1NP is a better bone formation marker. For evaluation of bone metabolism in patients, comparing bone turnover markers according to clinical severity and molecular findings is more informative than mode of inheritance.

Bone remodeling

10.21037/atm.2017.s030

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Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia

Andrologia (2020)

Maha M. Kobesiy Bardees M. Foda Ola Ali Ibrahim Fahmy Somaia Ismail

Macrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely enlarged head and multiple tails. The presence of at least 70% of spermatozoa with a large head is usually associated with Aurora kinase C gene (AURKC) mutations. We sought to assess AURKC as a potential genetic actor of macrozoospermia in a sample of infertile Egyptian men. We recruited 30 patients and conducted a clinical examination, semen analysis, and DNA sequencing and RFLP for AURKC. We diagnosed 17 patients with characteristic macrozoospermia and classified them into eight severe and nine mild cases. We detected genetic variants of AURKC in five patients (29.4%): Three patients with severe macrozoospermia had c.144delC mutations in exon 3 (37.5% of the severe), and two mild cases had c.1157G>A polymorphism in the 3' UTR (22.2% of the mild). A successful intracytoplasmic sperm injection (ICSI) was achieved only with a severe macrozoospermia patient without apparent AURKC mutation. The present study is the first report to link macrozoospermia and AURKC mutations in Egypt. The study recommends macrozoospermia patients to perform AURKC gene analysis and attempt ICSI, even those with a high percentage of large head spermatozoa.

Semen Analysis

10.1111/and.13619

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Purification of a novel monophenolase inhibitory peptides prepared from Vicia faba pods protein via enzymatic hydrolysis

Biocatalysis and Agricultural Biotechnology (2019)

S. Elsayed Rehab A. Al- Azzouny Ola Ali

EC50

10.1016/j.bcab.2019.101123

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A Study of Self Esteem and Stress related Symptoms as Predictors of Psychological Well Being among Single and Dual Career Couples

Shodhganga (2019)

Attallah Fouqara Khatatneh Ola Ali

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Identifying of HBV DNA in liver tissues of chronic hepatitis and hepatocellular carcinoma to study the Hepatitis B virus silent infection in Egyptian patients

Ecological Genetics and Genomics (2020)

Doha El‐Sayed Ellakwa Mohamed Abdel‐Hamid Mohamed Ashour Laila El- Sayed Khairy Ola Ali

Hepatitis B

Liver Cancer

10.1016/j.egg.2020.100077

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Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

Orphanet Journal of Rare Diseases (2023)

Doaa M. A. Ibrahim Ola Ali Hala Nasr Ekram Fateen Alice Abdel Aleem

Abstract Background Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish descent. Mutations in the alpha subunit of HEXA that encodes for the β-hexosaminidase-A lead to deficient enzyme activity and TSD phenotype. This study is the first to highlight the HEXA sequence variations spectrum in a cohort of Egyptian patients with infantile TSD. Results This study involved 13 Egyptian infant/children patients presented with the infantile form of TSD, ten of the 13 patients were born to consanguineous marriages. β-hexosaminidase-A enzyme activity was markedly reduced in the 13 patients with a mean activity of 3 µmol/L/h ± 1.56. Sanger sequencing of the HEXA’ coding regions and splicing junctions enabled a detection rate of ~ 62% (8/13) in our patients revealing the molecular defects in eight patients; six homozygous-mutant children (five of them were the product of consanguineous marriages) and two patients showed their mutant alleles in heterozygous genotypes, while no disease-causing mutation was identified in the remaining patients. Regulatory intragenic mutations or del/dup may underlie the molecular defect in those patients showing no relevant pathogenic sequencing variants or in the two patients with a heterozygous genotype of the mutant allele. This research identified three novel, likely pathogenic variants in association with the TSD phenotype; two missense, c.920A > C (E307A) and c.952C > G (H318D) in exon 8, and a single base deletion c.484delG causing a frameshift E162Rfs*37 (p.Glu162ArgfsTer37) in exon 5. Three recurrent disease-causing missense mutations; c.1495C > T (R499C), c.1511G > A(R504H), and c.1510C > T(R504C) in exon 13 were identified in five of the eight patients. None of the variants was detected in 50 healthy Egyptians’ DNA. Five variants, likely benign or of uncertain significance, S3T, I436V, E506E, and T2T, in exons 1, 11,13, & 1 were detected in our study. Conclusions For the proper diagnostics, genetic counseling, and primary prevention, our study stresses the important role of Next Generation Sequencing approaches in delineating the molecular defect in TSD-candidate patients that showed negative Sanger sequencing or a heterozygous mutant allele in their genetic testing results. Interestingly, the three recurrent TSD associated mutations were clustered on chromosome 13 and accounted for 38% of the HEXA mutations detected in this study. This suggested exon 13 as the first candidate for sequencing screening in Egyptian patients with infantile TSD. Larger studies involving our regional population are recommended, hence unique disease associated pathogenic variations could be identified.

Tay-Sachs disease

Sanger sequencing

HEXA

Compound heterozygosity

10.1186/s13023-023-02637-1

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The effect of using kefir grains and mesenchymal stem cells in LPS-induced Alzheimer’s disease neuroinflammatory model

eNeurobiología (2019)

Mai M. Anwar Ola Ali Laila Ahmed R.Ayman M. Badawi Nadia A. Eltablawy

La enfermedad de Alzheimer (EA) se caracteriza por una acumulación severa de placas amiloides y ovillos neurofibrilares acompañados de disfunciones cognitivas severas que conducen a cambios importantes que afectan la calidad del patrón de vida diaria del paciente. El objetivo del presente estudio es investigar los efectos de la administración de células madre mesenquimales (MSC) y/o granos de kéfir de leche en el modelo de tipo neuroinflamatorio de EA inducida por LPS de manera alternativa. Se observó que una elevación significativa del perfil lipídico y el estrés oxidativo estaban relacionados con EA de tipo neuroinflamatoria inducida con LPS. La expresión del gen BDNF, Bcl-2 y seladin-1 también se redujo significativamente en ratas con EA, mientras que la expresión relativa de Bax aumentó significativamente. La administración de granos de kéfir de leche y/o MSC suprimió los inconvenientes de la EA incluyendo cambios de comportamiento y memoria. Conclusión: La administración previa y la coadministración de granos de kéfir de leche con MSC pueden actuar como un neuromodulador activo que atenúa el proceso inflamatorio patológico subyacente que acompaña a la EA, lo que resulta en la progresión de daños en el tejido cerebral.

10.25009/eb.v10i25.2568

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Citations (8)