A joint research group composed of Cambridge University and others used exome sequencing technology to study adrenal sebaceous adenoma, found two variant genes related to the disease, and conducted functional studies on the variant genes. The study found that two genes (ATP1A1 and CACNA1D) that regulate Na +, K +, and Ca2 + ion transport in the patient were mutated, and different types of genetic variation formed different subtypes of adrenal sebaceous adenoma. This finding will facilitate the early and accurate diagnosis of adrenal sebaceous adenoma in the clinic. The relevant results were published online in the journal Nature Genetics on August 4, 2013.
Adrenal cortical adenoma is one of the common causes of hypertension, and at least 5% of hypertensive patients have adrenal sebaceous adenoma. According to previous research reports, the cause of the disease is the mutation of a specific gene in the genome, that is, the KCNJ5 gene related to the K + channel has a function gain mutation, and the regulation-related ATP1A1 and ATP2A3 genes have a loss-of-function mutation.
In this study, 13 patients with adrenocortical adenoma (including 10 spherical bands and 3 bundled bands as sensitivity controls) tumor tissue cells, venous blood and tumor surrounding tissue were exon For sequencing, HiSeq 2000 90PE was used, and the sequencing depth of all samples was above 30 ×. Through comparative analysis to detect single base variation (SNV), insertion deletion (InDel) and copy number variation (CNV), etc., and use microfluidic sequencing, gene chip and Na +, K + and Ca2 + electrophysiological analysis methods to analyze the function of the mutated gene And in-depth analysis of the pathogenic mechanism.
The study found that 9 out of 10 adrenocortical adenoma patients had mutations in the gene encoding Na + / K + ATPase α1 subunit (ATP1A1) and the gene encoding L-type Ca2 + channel (CACNA1D), resulting in deletion and replacement of codon , Instead encoding arginine, cysteine, etc. However, the KNJ5 mutation reported by the predecessors was not found in 10 patients, and no ATP1A1 or CACNA1D mutation was found in 100 healthy individuals with normal blood pressure and 8000 published exomes. Different from previous conclusions, this study found that most of the cells had functional gain mutations that regulated Na + and Ca2 +, and these mutations have occurred in very small tumors. Based on this, the research team believes that the diagnosis of adrenocortical adenoma cannot rely solely on CT and other imaging methods to find the exact tumor.
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