The Heritability of Alcoholism
Edith S. Lisansky Gomberg in Current Issues in Alcohol/Drug Studies, 2019
In three papers, Schuckit et al. (1972a, 1972b, 1972c) reported upon various stages of their investigation of a group of alcoholic probands and their half siblings. These individuals have differing genetic and environmental relatedness depending on their parentage, and thus offer a means of evaluating the contribution of heredity. The 69 probands were chosen from patients admitted to the alcohol unit of the Malcolm Bliss Mental Health Center and from the Renard Hospital (both in St. Louis, Mo.) on the basis of “. . . severe life problems as a consequence of alcohol abuse,” defined as alcoholism: the consequence of alcohol abuse was the presence of (1) a divorce or legal separation, or (2) a job loss, or (3) two or more nontraffic arrests, or (4) a hospitalization for a physical or psychiatric consequence of excessive drinking other than the index admission. Persons with any preexisting psychiatric disorder were excluded. In addition to meeting one of the mentioned criteria, the probands also had to have half siblings: 164 were found. From the probands, and 90 of their relatives, was obtained a “.. . history of psychiatric illness in their biologic parents, in all parent figures, and in full siblings and half siblings, as well as in biologic parents and parent figures of the half siblings.”
Introduction to Genomics
Altuna Akalin in Computational Genomics with R, 2020
In the genome, there are specific regions containing the precise information that encodes for physical products of genetic information. A region in the genome with this information is traditionally called a “gene”. However, the precise definition of the gene is still developing. According to the classical textbooks in molecular biology, a gene is a segment of a DNA sequence corresponding to a single protein or to a single catalytic and structural RNA molecule (Alberts et al., 2002). A modern definition is: “A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript” (Eilbeck et al., 2005). No matter how variable the definitions are, all agree on the fact that genes are basic units of heredity in all living organisms.
Food Interactions, Sirtuins, Genes, Homeostasis, and General Discussion
Chuong Pham-Huy, Bruno Pham Huy in Food and Lifestyle in Health and Disease, 2022
A gene, the basic physical and functional unit of heredity, is made up of deoxyribonucleic acid (DNA). (103–107). A gene is a sequence of nucleotides in a particular nucleic acid (104). The nucleotide is the structural unit of a nucleic acid. It is comprised of phosphoric acid, sugar (5-carbon), and a nitrogenous base. The chains of nucleotides in a nucleic acid are linked by 3′, 5′ phosphodiester linkages (104). Genes control identifiable traits of an organism. Genes are segments of DNA that contain the code for a specific protein that functions in one or more types of cells in the body (106). The information stored in DNA is arranged in hereditary units, now known as genes, that control identifiable traits of an organism. In the process of transcription, the information stored in DNA is copied into ribonucleic acid (RNA), which has three distinct roles in protein synthesis (107). Some genes contain all the information necessary to synthesize a protein (enzyme). However, many genes do not code for proteins (105). In humans, genes vary in size from a few hundred DNA bases to more than 2 million DNA bases (105). Humans have about 20,000 to 25,000 genes (105–106).
New concepts in the treatment and diagnosis of amyloidosis
Published in Expert Review of Hematology, 2018
Paolo Milani, Giovanni Palladini, Giampaolo Merlini
Some clinical features can strongly suggest AL amyloidosis. These include the association of a monoclonal component with heart or soft tissue involvement (defined as the presence of periorbital purpura and/or macroglossia), and albuminuria. However, despite these features, unequivocal typing of the amyloid deposits is mandatory before starting specific treatment because of the possible overlap in the clinical presentation of different types of amyloidosis [18,19]. The use of commercial antibodies in light microscopy immunohistochemistry demonstrated a low diagnostic sensitivity for tissue typing [20], although in highly specialized laboratories satisfactory typing can be achieved with the use of custom-made antibodies [21]. Immuno-electron microscopy [14] or mass spectrometry approaches have been proven to be very effective in amyloid typing [22,23]. DNA analysis is needed to define the hereditary forms. These techniques are available in specialized centers, and patients should be referred to these for diagnosis whenever possible before starting treatment.
Immunology of leprosy
Published in International Reviews of Immunology, 2022
Luis Alberto Ribeiro Froes, Maria Angela Bianconcini Trindade, Mirian Nacagami Sotto
The pathophysiology of leprosy is multifactorial, with genetic, immunological and environmental aspects determining the individual’s susceptibility to the bacillus [3–5]. Individuals whose skin bacilloscopic index reveals a high concentration of bacilli are called multibacillary. These individuals typically develop a weak cellular immune response, unable to contain the proliferation of M. leprae, with an intense humoral response and high titers of specific serum antibodies against the bacillus [6]. Susceptibility is also influenced by hereditary traits, with variable expressiveness in several genes demonstrated, according to the clinical presentation. Of particular relevance, in lepromatous leprosy and leprosy reactions, is the fact that genes involved in the humoral immune response are highly expressed, notably genes for immunoglobulin receptors or proteins of the classical complement pathway [7].
The concepts of heredity and degeneration in the work of Jean-Martin Charcot
Published in Journal of the History of the Neurosciences, 2020
Olivier Walusinski
Lucas started by mentioning his predecessors, such Antoine Louis (1723–1792; Louis 1749) and notably the 1828 hybridization experiments of Charles Girou de Buzareingues (1773–1856), a forerunner of Mendel working in the Rouergue region of southern France (Girou de Buzareingues 1828). Lucas’s book, which smacks of scholasticism but reveals his vast erudition, is dense, full of digressions, and hard to read. In summary, Lucas saw procreation as obeying two laws, “innateness, or the law of expression of the diverse, and heredity, or the law of expression of the similar.” Innateness, or “law of invention,” is “what constitutes the originality, imagination, and liberty of life in mediate generation,” which can be understood in terms of trait variability and phenotype. Lucas used the qualifier of invention, which is similar to adaptation in Darwin and would become the idea of mutation. Heredity, or “law of imitation,” represents “what constitutes the repetition and memory of life in the same type of generation,” which he understood as genotype. Lucas saw heredity as “the immutability of the nature of species,” the basis for the fixism in which he believed. In the many examples he cited, he confused genetically determined traits (albinism, for example) and embryogenic defects (harelip, for example). Lucas refuted numerous legends, such as “the action of imagination on coitus” and the role of adultery in malformations, attributed at that time to heredity (Figure 3).
Related Knowledge Centers
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