[Hormone-sensitive lipase/cholesteryl esterase from the adrenal cortex - structure, regulation and role in steroid hormone synthesis].

Hormone-sensitive lipase/cholesteryl esterase (HSL), encoded by LIPE gene, plays a very important role in the metabolism of acylglycerols in the adipose tissue and cholesteryl esters in the adrenal cortex, gonads and placenta. Isoforms of this enzyme supply fatty acids, important energy substrates, and free cholesterol required for steroid hormone synthesis. Recent discoveries on hormonal regulation of HSL synthesis with special emphasis given to the regulation of LIPE gene expression, its tissue-specific promoters and activation of the gene products by phosphorylation, as well as the role of HSL in the metabolism of cholesteryl esters were reviewed.

Induction of hormone-sensitive lipase/cholesteryl esterase gene expression by C/EBPα independently of the PKA pathway in the adrenocortical Y-1 cells.

The effect of C/EBPα on the expression of LIPE gene encoding hormone-sensitive lipase/cholesteryl esterase (HSL) was investigated in Y-1 CCL79 cells. It was found that transfection of these cells with the vector overexpressing C/EBPα increased both the level of LIPE transcript, measured by RT-qPCR, and the luminesce emitted by luciferase reporter gene fused to the -2150 fragment of LIPE promoter. Activation of adenylyl cyclase by forskolin resulted in 2.

Molecular basis of hypohidrotic ectodermal dysplasia: an update.

Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED.

SF-1 (NR5A1) expression is stimulated by the PKA pathway and is essential for the PKA-induced activation of LIPE expression in Y-1 cells.

In the adrenal cortex, corticotropin induces the expression of several genes encoding proteins involved in the synthesis and intracellular transport of steroid hormones via the protein kinase A (PKA) signalling pathway, and this process is mediated by steroidogenic factor-1 (SF-1). This study was designed to elucidate the influence of the PKA and PKC pathways on the expression of the SF-1 gene in mouse adrenocortical cells, line Y-1. It has also been attempted to answer the question whether or not SF-1 plays a role in the PKA-induced expression of LIPE gene encoding hormone-sensitive lipase/cholesteryl esterase, which supplies cholesterol for steroid hormone synthesis.

A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome.

A patient with a female phenotype, 46,XY karyotype, and a diagnosis of complete androgen insensitivity syndrome (CAIS) was examined. Her mother and three 46,XX sisters were also included in the study. Sequence analysis of the androgen receptor gene (AR) revealed a novel A2933 insertion that alters the Tyr codon to a termination codon (Y857X), resulting in a truncated form of the receptor.