China
Africa
Explore chapters and articles related to this topic
Unusual Inherited Pulmonary Diseases Which Provide Clues to Pulmonary Physiology and Function
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Thomas Κ. C. King, Robert A. Norum
In a detailed study [28], which included a family with eight cases in four generations, the authors concluded that the mode of transmission was compatible with that of an autosomal dominant gene with reduced penetrance. Their review of the literature at that time produced 97 cases of idiopathic pulmonary fibrosis in which 23 were familial. The ratio of females to males was 1:1 in the nonfamilial but 2:1 in the familial cases. Although the 2:1 ratio was that expected in a sex-linked dominant transmission, they pointed out that these numbers were too small to refute an autosomal mode of transmission. The addition of recently published familial cases now brings the female to-male ratio to 43:30 (Table 2). Furthermore, three cases of father-to-son transmission have since been reported with histologic documentation in one case [44,45,50], thus strongly supporting an autosomal dominant mode of inheritance.
Renal and urinary tract diseases
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
A family study of vesicoureteric reflux has shown a risk of around 10% to sibs (about 10 times the population frequency), which is relevant to the early detection and prevention of renal scarring. A similar proportion of parents were affected. In some families, a single dominant gene may be acting, but there is substantial locus heterogeneity. The genetic contribution to reflux is strong, but it may be more reasonable to regard it as multifactorial than autosomal dominant with incomplete penetrance and locus heterogeneity. There may be overlap in causation with urinary tract obstruction and multicystic dysplastic kidney disease/renal hypo-/dysplasia.
The Basal Cell Nevus Syndrome
Published in Roger M. Browne, Investigative Pathology of the Odontogenic Cysts, 2019
Julia A. Woolgar, J. W. Rippin
From all the foregoing, we conclude as follows. The etiology of BCNS includes a major genetic component. It is not firmly established that a single gene is responsible, but currently it is probably necessary to work on such an hypothesis. In that case, an autosomal dominant gene, perhaps on the p arm of chromosome 1, is a likely candidate. Most patients are found to have a parent with syndrome features, albeit sometimes of minor degree, so from this point of view it is not necessary to suppose a significant mutation rate. Furthermore, there is no evidence that the gene has any effect on fertility, nor that it provides any survival advantage. Thus, one might expect that its frequency in populations would remain stable, but the necessary epidemiological data to test this hypothesis is not available.
Intrahepatic cholestasis of pregnancy: from an obstetrician point of view
Published in Journal of Obstetrics and Gynaecology, 2022
Mohsen M. A. Abdelhafez, Karim A. M. Ahmed, Win Win Than, Dg Marshitah Pg Baharuddin, Fairrul Kadir, Saffree Jeffree, Mohammad Firdaus Hayati, Mohd Nazri Bin Mohd Daud, Aya M. Eldiastey, Kai Xin Tay
There is a general consensus supporting the multi factorial hypothesis of development of ICP with genetic, hormonal and environmental backgrounds (Williamson and Geenes 2014b). The evidence for genetic predisposition of the disease comes mainly from the familial clustering prevalence of the disease and the inheritance pattern was thought to be through an autosomal dominant gene (Jacquemin et al. 1999). The influence of the reproductive hormones on the pathogenesis of ICP rests mainly on the observations of the natural history of the disease and was supported by the fact that progesterone therapy was known to be used to prevent preterm delivery (Bacq et al. 1997). Rodent studies have demonstrated the static effect of oestrogen, with subsequent reduction in expression of hepatic biliary transport (Abu-Hayyeh et al. 2013). Progesterone metabolites, have been shown, also, to be associated with impairment of hepatic bile acid homeostasis (Abu-Hayyeh et al. 2016). Some other dietary factors were observed to have a role in the development of ICP, of which, the low dietary selenium and vitamin D intake (Reyes et al. 2000; Wikström Shemer and Marschall 2010).
Gene therapy to terminate tachyarrhythmias
Published in Expert Review of Cardiovascular Therapy, 2022
Kohei Kawajiri, Kensuke Ihara, Tetsuo Sasano
Although many scientists have been actively working on antiarrhythmic drugs, few antiarrhythmic drugs have been approved for clinical use in recent years [11]. Therefore, there is a great need for the development and clinical application of innovative therapies using gene therapy in the field of arrhythmia. Curing or improving genetically determined arrhythmogenic substrates through disease-specific gene therapy is an attractive means of treatment. However, in clinical practice and trials, the outcomes of gene therapy in the cardiac field are not as favorable as those in other fields [12]. One of the obstacles to clinical application is the lack of a safe and effective method of local gene delivery to the heart. Although a local gene therapy strategy is more preferable than systemic administration to reduce the toxicity of gene therapy, minimally invasive administration methods with high selectivity and efficacy are still in the development phase. Another obstacle is that there are many candidate genes to be targeted to improve arrhythmia substrate. In the case of hereditary arrhythmias, it is possible to achieve efficacy by targeting only one dominant gene, but in the case of AF, it is difficult to determine which gene to target, because numerous genes responsible for AF have been reported [13]. In this review, we discuss the methods of local delivery to the myocardium and the targeted genes of cardiac arrhythmias.
Playing the genome card
Published in Journal of Neurogenetics, 2020
In contrast, mutations that have relatively minor health effects on their own, or that have positive health effects that at least partly balance out their negative ones, can persist in a substantial fraction of a population. An example would be the malaria resistance conveyed by one copy of the sickle-cell gene. Thus, Mendelian recessive mutations that are debilitating for those who have two copies can persist in the population. Mutations that contribute to major disorders, but only in combination with many other mutations and/or non-genetic factors, may also persist. A notable exception to these rules is Huntington’s Disease, which is a debilitating and relatively common disease caused by mutations of a single, dominant gene. It typically does not cause symptoms until a person is in their post-reproductive years, so it usually does not affect child-bearing and therefore can remain common within a population.