Multiple sclerosis, idiopathic dilated cardiomyopathy, and insulin-dependent diabetes mellitus: a common mechanism of irregular immune regulation.

Background: Multiple sclerosis (MS), idiopathic dilated cardiomyopathy (DCM), and diabetes mellitus-1 (DM-1) are polygenic autoimmune diseases with a pivotal autoimmune component affecting young adults. They share a number of characteristics, thereby suggesting common underlying pathways or mechanisms. Typically, the aforementioned diseases are organ-specific autoimmune disorders of unknown etiology, but with strong evidence of tissue-destructive activity of the humoral and/or cellular immune system in the end-organ tissues affected (ie, the myelin components in MS, the myocytes of myocardium in DCM, and the insulin-secreting β islets in DM-1).

A case-control study on the rs3130932 single nucleotide polymorphism in the OCT4B translation initiation codon in association with cancer state.

A previously characterized single nucleotide polymorphism (rs3130932) in the translation initiation codon of the OCT4B isoform of the human OCT4 gene, ATG → AGG, is expected to hamper its expression in individuals carrying the AGG genotype. A case-control association study was conducted to validate the AGG genotype as a risk factor for tumour development. Blood samples were collected from 221 female patients with breast cancer, 100 female patients with ovarian cancer, 109 male patients with lung cancer and 553 age-matched and sex-matched healthy individuals.