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Introduction
Published in Antonietta Morena Gatti, Stefano Montanari, Advances in Nanopathology From Vaccines to Food, 2021
Antonietta Morena Gatti, Stefano Montanari
But what they did and the impulse to research which they gave, though still lasting, is not enough. Pathologies are not only the infectious ones, and nowadays we witness the dramatic increase of diseases which once were rare when not unknown or non-existent at all. As a matter of fact, the so-called orphan diseases, pathologies about which we know very little and to which there are no therapies available, can be counted in several thousands. In addition, for a non-negligible number of known diseases the real cause is partially unknown, utterly ignored or, maybe and with even worse consequences, misunderstood. Unfortunately not unlike what happened with the criticisms on miasmatic theory and many other medical beliefs, there are discoveries which, though supported by indisputable evidence, are not welcome. To this grudging reception many explanations can be put forward, from mental laziness to fear of the new, from presumption to vested interest.
Pharmaceuticals: Some General Aspects
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
According to the European Medicines Agency the number of rare/orphan diseases is between 5,000 and 8,000, and 27 million to 36 million patients in the EU are suffering from such diseases of which most (~80%) are of genetic origin. The NORD’s (National Organization for Rare Disorders, Inc.) database contained details for more than 1,200 rare diseases by 2018. The orphan drug status has been introduced in various countries, among them the USA (for an Orphan Drug Modernization Plan see FDA, 2017a, 2017b, 2017c), Japan, Singapore, Australia and the EU (since 2000), to foster the development of drugs for treating rare diseases by a set of commercial incentives. The prerequisites for receiving this status are different. In the USA (orphan medicinal product designation) a rare disease is one that affects <200,000 individuals whereas in the EU (orphan drug designation) the respective limit is 5 of 10,000 inhabitants, and in Australia just about 1 per 10,000. In the EU, the orphan status of a drug is linked to a rare disease that is life-threatening and for which no alternative method of treatment (or prevention) exists.
Adverse health effects and stresses on offspring due to paternal exposure to harmful substances
Published in Critical Reviews in Environmental Science and Technology, 2023
Jiaqi Sun, Miaomiao Teng, Fengchang Wu, Xiaoli Zhao, Yunxia Li, Lihui Zhao, Wentian Zhao, Keng Po Lai, Kenneth Mei Yee Leung, John P. Giesy
In another study, paternal EtOH treatment (PatEE) was shown to interfere with gene expression in the brain; potential mechanisms for transmission of PatEE’s harmful effects from sperm to offspring included modifications of histones (Conner et al., 2020). A proposed model of how an EtOH-exposed sire’s sperm can be negatively affected by EtOH consumption is shown in Figure 5. Male mice that self-administered 25% EtOH experienced changes in the expression of genes in their offspring, such as intraneocortical connectivity and behavior, compared to the offspring of sires exposed to only water (Conner et al., 2020). Exposure to EtOH triggered changes in the neurotransmitter GE in the brain. Exposure to PatEE can trigger an initial epigenetic dysregulation in sperm that might cause direct changes in the expression patterns of the retinoid-related orphan receptor beta (RZRβ) and inhibitor of DNA binding 2 (Id2) genes. These genes govern the connectivity within the cortex, which disrupts intraneocortical connection (INC) patterning and ultimately results in abnormal later-life behavior (Vassoler et al., 2013). Additionally, the mRNA and protein levels of brain-derived neurotrophic factor (BDNF) increased in the medial prefrontal cortex (mPFC), and the association between acetylated histone H3 and the BDNF promoter increased only in the offspring of paternal males exposed to cocaine (Figure 5) (Vassoler et al., 2013).
POPs’ effect on cardiometabolic and inflammatory profile in a sample of women with obesity and hypertension
Published in Archives of Environmental & Occupational Health, 2019
Ana Ferro, Diana Teixeira, Diogo Pestana, Rosário Monteiro, Cristina C. Santos, Valentina F. Domingues, Jorge Polónia, Conceição Calhau
Every day, humans are exposed to mixtures of POPs, making it difficult to establish an association between body concentration of a single POP and certain comorbidity, possibly attributable to the different interactions among several of these compounds, and not taking the “cocktail effect” into consideration.32 As endocrine disruptors chemicals (EDCs), defined by the World Health Organization (WHO) as “an exogenous substance or mixture that alters the function(s) of the endocrine system and consequently causes adverse health effects in an intact organism, or its progeny or (sub) populations,”33–35 they comprise a vast number of compounds with distinct chemical structures and properties.36,37 Indeed, adding a layer of complexity to their effects, these chemicals can act through a multiplicity of mechanisms, namely through nuclear receptors, nonnuclear steroid hormone receptors,38 nonsteroid receptors (eg, neurotransmitter receptors), orphan receptors [such as aryl hydrocarbon receptor (AhR)] and also in pathways related to steroid biosynthesis and/or metabolism or on other actions that may impose onto the endocrine system, such as oxidative stress, mitochondrial dysfunction and epigenetic modifications.39
GPR61 methylation in cord blood: a potential target of prenatal exposure to air pollutants
Published in International Journal of Environmental Health Research, 2022
Feifei Feng, Li Huang, Guoyu Zhou, Jia Wang, Ruiqin Zhang, Zhiyuan Li, Yawei Zhang, Yue Ba
In this study, we identified a total of 207 genes with significantly correlated methylation levels in 12 mother-infant pairs using genome-wide methylation approach, and found a higher methylation level of the GPR61 gene both in mothers and newborns. GPR61 is an orphan receptor that is predominantly expressed in the brain, although its ligand and functions have not yet been identified (Lee et al. 2001; Toyooka et al. 2009). It has been reported that GPR61 deficiency causes hyperphagia and obesity in GPR61-deficient mice, which suggests that it may be involved in various physiological functions including food intake and body weight (Nambu et al. 2011). Moreover, studies have shown that GPR61 may be associated with soft-tissue tumors (Hur et al. 2010; Azizan et al. 2012). We further validated the GPR61 methylation status in 568 mother-infant pairs and also found a moderate and positive mother-infant DNA methylation correlation in the promoter region of GPR61. This result not only shows maternal methylation patterns could influence infant GPR61 methylation pattern, but also suggests maternal health should be pay public attention to, especially during pregnancy. In addition to the known genetic variation, the effects of environmental exposures or the interactions may also be the reasons for the origin of some diseases, including type 2 diabetes (T2D) and obesity (Drong et al. 2012). Environmental exposure during pregnancy plays a vital role in adverse birth outcomes, as well as certain diseases later in life, which involves in epigenetic alterations (Wilhelm-Benartzi et al. 2012; Green and Marsit 2015; Saenen et al. 2019). Thus, it is necessary to illuminate the effects of environmental exposure during pregnancy on epigenetic alterations.