Publications by authors named "R Burghardt"
Article Synopsis
- The study investigated the CTBP2 gene and its relation to anorexia nervosa (AN) and body mass index (BMI) through mutation analysis, revealing 24 variants in the RIBEYE exon among various groups including patients with AN, obese children, and healthy individuals.
- Three rare non-synonymous variants were found in AN patients, while several variants were unique to children with severe obesity, indicating potential genetic links to these conditions.
- Functional studies showed that RIBEYE mRNA is expressed in the mouse hypothalamus and is influenced by leptin treatment, suggesting that the RIBEYE gene may play a role in body weight regulation.
In Brief: The trophectoderm of the elongating conceptuses of cattle, sheep, and pigs secrete high amounts of interferons that increase or induce the expression of interferon-stimulated genes (ISGs) in the endometrium. Research concerning ISGs, performed from 1995 through 2023, is reviewed in this manuscript.
Abstract: Expression of the classical interferon (IFN) stimulated genes (ISGs) increases in the endometrial stroma and glandular epithelium (GE) through activation of signal transducer and activator of transcription (STAT) signaling in response to the secretion of IFN tau (IFNT) and IFN gamma (IFNG) by the conceptuses of ruminants, including cattle and sheep, and pigs, respectively.
Mutations leading to a reduced or loss of function in genes of the leptin-melanocortin system confer a risk for monogenic forms of obesity. Yet, gain of function variants in the melanocortin-4-receptor (MC4R) gene predispose to a lower BMI. In individuals with reduced body weight, we thus expected mutations leading to an enhanced function in the respective genes, like leptin (LEP) and MC4R.
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- Interferon-gamma (IFNG) is a key pro-inflammatory cytokine produced by pig embryos during early pregnancy, crucial for implantation and conceptus survival.
- The study found IFNG present in both the embryo and the endometrial lining on Day 15 of pregnancy, indicating potential mechanisms for its transport across the uterine lining.
- Results suggest that extracellular vesicles (EVs) play a significant role in transporting IFNG from the conceptus into the endometrium, enhancing communication for successful pregnancy continuation.
Mammals differ regarding their placentae, but in all species placental trophoblasts interact intimately with the uterine endometrium to mediate the transfer of nutrients from the mother to the embryo/fetus through the closely juxtaposed microcirculatory systems of the uterus and placenta. Placentation in ruminants is intermediate between the non-invasive type, as observed in the epitheliochorial placenta of pigs, and the invasive type, as observed in the haemochorial placentae of mice and humans. In ruminants, placental trophoblast cells invade uterine endometrial tissue, but invasion is believed to be limited to the endometrial luminal epithelium (LE).
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