Meta-analysis of RAG2 using a genotranscriptomic/proteomic approach: Suggestive of its oncogenic role

<p>Epigenetic modifications are implicated in various intracellular changes that altogether result in regulation of proteinic content within the cells. These epigenetic modifications are exerted mostly by epigenetic complexes such as PRC2 and ASCOM which their misregulation is implicated in development of different diseases including cancer. Herein a genotranscriptomic/proteomic metaanalysis is done using different databases such as COSMIC, cBioPortal and The Human Protein Atlas to investigate the oncogenic role of RAG2, a component of ASCOM complex. In addition, the similarities between mutation distribution of RAG2 and JARID2, a component of PRC2 and also between their over/under expression may be suggestive of the association between PRC2 and ASCOM.</p> <p> </p

HOTAIR: an oncogenic long non-coding RNA in different cancers

<p>Long non-coding RNAs (lncRNAs) refer to a group of RNAs that are usually more than 200 nucleotides and are not involved in protein generation. Instead, lncRNAs are involved in different regulatory processes, such as regulation of gene expression. Different lncRNAs exist throughout the genome. LncRNAs are also known for their roles in different human diseases such as cancer. HOTAIR is an lncRNA that plays a role as an oncogenic molecule in different cancer cells, such as breast, gastric, colorectal, and cervical cancer cells. Therefore, HOTAIR expression level is a potential biomarker for diagnostic and therapeutic purposes in several cancers. This RNA takes part in epigenetic regulation of genes and plays an important role in different cellular pathways by interacting with Polycomb Repressive Complex 2 (PRC2). In this review, we describe the molecular function and regulation of HOTAIR and its role in different types of cancers.</p> <p> </p

Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

<div><p>Abstract Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients.</p></div