The role of EZH2 and its regulatory lncRNAs as a serum-based biomarker in Alzheimer's disease.

BACKGROUND: Long noncoding RNAs (lncRNAs) have become a hot topic in the human nervous system. Moreover, circulating lncRNAs have been suggested as possible biomarkers for central nervous system processes and neurodegenerative diseases. The present research aimed to highlight the role of plasma lncRNAs TUG1, FEZF1-AS1, and EZH2 gene as diagnostic biomarkers in Alzheimer's disease (AD). METHODS: Plasma samples for the study were provided by 100 AD patients and 100 matched controls. Real-time quantitative reverse transcriptase PCR was used to determine the plasma level of the aforementioned lncRNAs. Furthermore, the plasma level of EZH2 protein in the participants' blood was determined using the ELISA technique. RESULTS: In contrast to controls, down-regulation of the EZH2 gene and protein was reported in the plasma of patients with AD. Additionally, plasma samples from AD patients showed up-and-down-regulation of the lncRNAs TUG1 and FEZF1-AS1, respectively. CONCLUSION: Our new findings suggest that the EZH2 gene, plasma lncRNA TUG1, and FEZF1-AS1 may contribute, as valuable biomarkers, to AD diagnosis.

P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.

Sandhoff disease is a rare neurodegenerative and autosomal recessive disorder, which is characterized by a defect in ganglioside metabolism. Also, it is caused by mutations in the HEXB gene for the ß-subunit isoform 1 of ß-N-acetyl hexosaminidase. In the present study, an Iranian 14- month -old girl with 8- month history of unsteady walking and involuntary movements was described. In this regard, biochemical testing showed some defects in the normal activity of beta-hexosaminidase protein. Following sequencing of HEXB gene, a homozygous c.833C > T mutation was identified in the patient's genome. After recognition of p.A278V, several different in silico methods were used to assess the mutant protein stability, ranging from mutation prediction methods to ligand docking. The p.A278V mutation might be disruptive because of changing the three-dimensional folding at the end of the 5th alpha helix. According to the medical prognosis, in silico and structural analyses, it was predicted to be disease cause.

Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All of these clinical manifestations are associated with atypical neural development. Various genetic and environmental risk factors are involved in the etiology of autism. Genetic assessment is essential for the early detection and intervention which can improve social communications and reduce abnormal behaviors. Although, there is a noticeable ASD incidence in Middle East countries, there is still a lack of knowledge about the genetic and molecular biology of ASD among this population to introduce efficient diagnostic and prognostic methods. MAIN BODY: In the present review, we have summarized all of the genes which have been associated with ASD progression among Middle East population. We have also categorized the reported genes based on their cell and molecular functions. CONCLUSIONS: This review clarifies the genetic and molecular biology of ASD among Middle East population and paves the way of introducing an efficient population based panel of genetic markers for the early detection and management of ASD in Middle East countries.