Archives of Molecular Biology and Genetics

The nature of gene mutations induced by ionizing radiation in germ cells and transmitted to offspring remains one of the most important problems in radiation genetics of higher eukaryotes. The data accumulated in this field were obtained by different authors under different experimental conditions which does not give a complete insight about the nature of radiation-induced inherited mutations at different genome levels (chromosome, gene, DNA). 

Balanced translocation resulting in fusion of the Abelson gene (ABL₁) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11.2 is the pathognomonic molecular driver of CML. The resulting BCRABL 1 fusion gene is both the diagnostic as well as therapeutic target of CML. The first agent with tyrosine kinase inhibitor activity that was licenced in 2000 for treatment of CML patients, was Imatinib, gradually followed by multiple agents with higher efficacy.

Bacterial communication via quorum sensing (QS) molecules, as well as toxin-antitoxin (TA) gene modules located on bacterial chromosomes are well-studied mechanisms. Escherichia coli mazEF is a stress-induced TA system mediating cell death requiring a QS extracellular death factor (EDF), the pentapeptide NNWNN. MazF is an endoribonuclease specific for ACA sites. During adverse conditions, the activated MazF generates a stress induced translation machinery, composed of MazF-processed mRNAs and selective ribosomes that specifically translate these processed mRNAs.

NOBOX is an ovarian specific transcription factor that plays an important role in follicular growth and survival. Nineteen NOBOX variants have been previously associated with premature ovarian insufficiency (POI). Disease severity in patients with heterozygous and homozygous mutations largely overlap however, hampering genotype-phenotype correlations. We recently reported the first case of biallelic truncating mutations (NM_001080413.3 (NOBOX):c.826C>T, p.(Arg276*) and NM_001080413.3(NOBOX):c.1421del, p.(Gly474Alafs*76)) of NOBOX in two Belgian sisters with POI.

Damage-Associated Molecular Patterns (DAMPs) are known by their nature to cause inflammatory responses in numerous disease states from cancer, trauma to age related diseases (e.g. atherosclerosis, Alzheimer’s and Parkinson’s diseases), these molecules are released by cells undergoing cell death.

It is now well accepted that the ionizing radiation-generated reactive oxygen species (ROS), that constitute ~2/3 of the effects of external beam radiation, do not only produce direct tumor cell death, but also affect the surrounding microenvironment. Moreover, this indirect effect of radiation may result in systemic effects, specifically the initiation of an inflammatory response.

The currently ongoing coronavirus pandemic, the SARSCOV- 2, interchangeably referred to as the COVID-19 infection, has in a short span of time altered the ways and means of almost all of mankind. So strong has been its effect that all human activity ceased in one way or another for a considerable time, led to significant loss of life and economic drain of.

Chronic stress exposure is linked to health and performance deficits including mental disorders, chronic diseases, and metabolic conditions. Stress management is an active process of coping with internal or external stressors to prevent or dampen biological and psychological strain

While rare, retinoblastoma is the most common (1:16000 – 18000 live births) intraocular and life threatening tumor of childhood. According to the World Health Organization (WHO), 66% of children present with symptoms before 2 years of age and 95% before 5 years of age. About 8000 new cases are detected annually with the highest incidence in Africa and India. In fact, more than 1400 cases each year are from India. According to Mukesh et al., 43% of the global burden lives in 6 countries of Asia (India, China, Indonesia, Pakistan, Bangladesh & Philippines).

Glucocorticoids (GCs) are defined by their role in maintaining glucose homeostasis and natural GCs are a class of corticosteroids secreted by the adrenal cortex. Cortisol is the most important natural GC in humans. Cellular cortisol levels are regulated by the tissue-specific metabolic enzymes 11β-hydroxysteroid dehydrogenase 1 and 2 (11β-HSD 1 and 2); 11β-HSD 1 converts inactive cortisone to active cortisol, while 11β-HSD 2 has the opposite function.

Signal transducer and activator of transcription 1 (STAT1) protein plays a pivotal role in various biological processes especially the regulation of innate and adaptive immune responses. Phosphorylation represents a key step in the activation of STAT1 and its transcriptional outcome. Binding of various extracellular ligands to their specific cell-surface receptors activates different phosphorylation of STAT1 followed by a distinct change of gene expression patterns.

In January 2020, the World Health Organization (WHO) classified COVID-19 to be a Public Health Emergency of International Concern and declared it a pandemic on March 11, 2020 [1]. Over one hundred and eighty-five million people have been infected by SARS-CoV-2 and roughly four million have died worldwide so far

Acanthamoeba was first described by Castellani and represents single-cell eukaryotes existing as either cellular trophozoites (25–40 ?m) or under adverse conditions (desiccation, lack of food, and extreme pH or temperature fluctuations), as dormant cysts (13–20 ?m). The cysts are known to be resistant to antibiotics, the effects of chlorine, and very low temperatures, and have been shown to maintain viability for over 20 years.

MicroRNAs (miRNAs) are short double-stranded regulatory molecules derived from precursor transcripts called primary miRNAs (pri-miRNAs) and transcribing in the nucleus from chromosomal DNA by the RNA polymerase II. These pri-miRNAs were shown to contain internal imperfect hairpin structures which are processed by DCL (dicer-like) enzyme

Fluoroquinolone antibiotics are usually used for the treatment of urinary tract infections. The aim of this study was to determine the prevalence and molecular characterization of Plasmid-Mediated Quinolone Resistance (PMQR) genes among ESBL-producing Escherichia coli isolates obtained from tertiary referral hospital in Tehran, Iran.

Previous studies of in vitro and in vivo morphogenesis may suggest a more inclusive principle governing biological processes. In this regard, methylglyoxal (MG) in very low, non-toxic concentrations and ascorbic acid have been shown to promote in vitro morphogenesis in various types of plants. Forces of cohesion and adhesion might be involved in such development. These are conveyed through the electronic desaturation of protein by means of MG and ascorbic acid.

This commentary refers to our published article, as highlighted in this article most common gene causing breast cancer in the population living in the United Arab Emirates is BRCA2 followed by BRCA1. This is the first publication discussing about clinical and pathological features of breast cancer in woman with a positive genetic mutation in the United Arab Emirates. The UAE has a rising population of a mixed ethnic population with predominantly Arabic background.  

Continuous spikes during slow wave sleep (CSWS) syndrome is an age-related and self-limited severe epileptic encephalopathy characterized by electrical status epilepticus in sleep (ESES) on electroencephalogram, seizures, and developmental regression. The mechanisms that lead to the development of CSWS syndrome are complex and not clear. Surprisingly, steroids and benzodiazepines offer a good treatment outcome compared to conventional anti-epileptic drugs. Of concern, this condition has a long-term poor prognosis due to the persistence of neuropsychological impairment. Many questions are yet to be answered in this syndrome.

Results of epidemiological studies show that obesity and type 2 diabetes mellitus have become a public health concern globally, which has substantial health, social and economic impacts. A common characteristic of human obesity and type 2 diabetes is insulin resistance, which a given amount of insulin produces less than normal physiological responses, usually demonstrated as diminished glucose lowering effect of insulin.

The recently published manuscript entitled “Epigenetically Altered T Cells Contribute to Lupus Flares” summarizes recent advances in our understanding of how the environment alters the immune system to cause flares of systemic lupus erythematosus (SLE) in genetically predisposed people, and why it affects women approximately 9 times more often than men