Nuclear AgNOR protein enhancement in nucleoplasms of peripheral blood lymphocytes of babies/children with down syndrome

Abstract

Down syndrome (DS) is one of the most common chromosomal disorders. The factors contributing to the mental retardation together with other defects in this syndrome have not been fully explained. Individuals with DS have extra rRNA gene family since they carry an extra chromosome 21. The few reports available are on the relationship between the nucleolus organizer regions (NORs) and DS phenotype. The in vivo regulation of NORs expression on the extra chromosome 21 is not completely understood. Previous studies have shown that nucleoli of lymphocytes from infants (mostly neonates) with DS contain more in vivo and in vitro nucleolar AgNOR proteins when compared with healthy infants. The objective of this study is to compare the in vivo nuclear AgNOR protein level in nucleoplasms (also called as karyoplasm) of nonstimulated peripheral blood lymphocytes from babies/children with DS and healthy controls. Peripheral blood samples obtained from 20 babies/children with DS and 20 matched healthy controls were smeared on clean glass slides and then AgNOR staining was performed. The AgNOR protein level in nucleoplasms of lymphocytes from both groups was calculated using a computer program. Nearly 100 interphase nuclei per individual were analysed. Average nuclear AgNOR protein levels in nucleoplasms of lymphocytes from babies/children with DS were found to be significantly higher than those of the controls (P < 0.001). On the basis of our present results, we propose that the increase of nuclear AgNOR protein in in vivo conditions may contribute to the formation of DS phenotypes.

The relationship of argyrophilic proteins of the nuclear‐organized regions and atopic dermatitis in children

“…Jajodia et al [16] reported that the number of AgNOR is related with the lesions of the oral cavity. Imamoglu et al [13] reported that the number of AgNOR was significantly increased in children with Down syndrome. Nisari et al [14] reported that the number of AgNOR proteins could be used as an indicator of ischaemia/reperfusion injury.…”

“…[8][9][10] The relationship between AgNOR and various cancer types and some disorders such as leukoplakia, lichen planus, oral submucosal fibrous, prostatic hyperplasia, neuronal damage and Down syndrome was investigated. [12][13][14][15] However, there have been no reports investigating the relationship between AgNOR and atopic dermatitis. The aim of this study was to investigate the relationship between atopic dermatitis and AgNOR in paediatric patients.…”

Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome

“…Данное предположение согласуется с наличием изменений активности рибосомного аппарата при заболеваниях, связанных с нейродегенерацией, например при болезни Паркинсона [18,19] или наследственных полиглутаминовых заболеваниях [20,21]. Кроме того, в нестимулированных лимфоцитах периферический крови детей с синдромом Дауна также была показана повышенная активность ядрышек по сравнению со здоровым контролем [22].…”

Effect of buscopan, a compound that alleviates cramps, on the developing nervous system of the chick embryo

“…The silver‐staining method is the most reliable to show nucleoli during the interphase (Trerè, 2000) and to identify active NOR‐bearing chromosomes at metaphase (Imamoglu, Demirtas, Donmez‐Altuntas, Hamurcu, & Ilten, 2005). There are various studies that have shown the importance of the quantity of interphase AgNOR in some diseases such as in buccal epithelial and blood cells of Down syndrome infants (Eroz, Okur, Ozkan, Berik, & Gunes, 2012; Imamoglu, Eroz, Canatan, Demirtas, & Saatci, 2016; Selvi, Demirtas, Eroz, & Imamoglu, 2015), and in possible effects of carbon monoxide (CO) exposure on the AgNOR protein synthesis of the cells of the heart, lung, and femoral muscle (Çolakoğlu et al, 2015; Kandiş et al, 2016; Saritas et al, 2016) and during ischemia/reperfusion injury (Nisari et al, 2016). In this study, we aimed to identify whether buscopan has an effect on cell proliferation and whether the detection of AgNOR protein amounts may be used to detect the toxic effect of the drugs and new metabolites that have a potential related to NT formation.…”