Recently, natural substances in the form of nanoparticles are increasingly being used in different field, particularly in medicines to enhance their beneficial effects in treatment and prevention. ...Cancer cells of the breast (MCF-7) have been chosen to be examined and treated in vitro
with conventional drug Tamoxifen (Tam) and tannin nanoparticles extract (NP99) individually or in combination. MTT reagent has been applied to assess the cell viability and propagation percentage, DNA fragmentation and mRNA relative expression of apoptotic genes to study the cell death pathway.
The results showed that Tam and tannin NP99 triggered cytotoxic activity towards the MCF7 cell. They reduce the viability and induced high potent repressive activity on cell proliferation percentage and induced apoptosis as indicated by rising the percentage in DNA fragmentation. Effect of
NP99 extract exhibited its effect in a dose and time-varying. The combined treatment of Tam and NP99 were much more efficient than individual drugs. It could be concluded that NP99 is considered a promising natural anticancer agent as a new tool in therapeutic strategies.
Osteopetrosis is a monogenic disorder represented by disturbed osteoclast resorption or osteoclastogenesis differentiation. Clinical symptoms are intensive and brittle bones, recurrent fractures, ...thrombocytopenia, impaired immune function, optic nerve compression, and anemia. Several osteopetrosis-causing genes have been identified and reported.
The present study describes two consanguineous Saudi families segregating a severe autosomal recessive osteopetrosis disease. A single proband (II-2) in family A and two probands (II-2; II-4) in family B exhibited increased bone density, multiple fractures, teeth abnormalities, bilateral optic atrophy with nystagmus, and progressive blindness. DNA of the affected individuals was exposed to whole-exome sequencing (WES) and Sanger sequencing. Further, reverse transcriptase-polymerase chain reaction (RT-PCR) and western blotting analysis were done to investigate the impact of the identified mutation.
WES revealed a novel homozygous splice site variant (c.739-18G > A) in theCLCN7gene on chromosome 16p13.3, segregating perfectly with the disorder phenotype. RT-PCR resulted in the retention of a 50 bp sequence of intron 8 in the mutated sequence. As a result, this variant resulted in a large size exon 9 compared to the wild type.In addition, the western blot revealed the heteromeric form of ClC-7 disappeared in the patient’s fibroblasts versus the control, indicating identified variant pathogenicity.
The present research provides certain proof that homozygous variants in the CLCN7 gene are responsible for intense osteopetrosis disorders with diverse phenotypes. These findings have significant implications for decisions regarding the clinical therapeutic regimen, prognosis assessment, and antenatal diagnosis.
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