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Medicinal Plants for Eczema
Published in Namrita Lall, Medicinal Plants for Cosmetics, Health and Diseases, 2022
In conclusion, both the inside-out and outside-in hypotheses are considered as viable theories on the causation of eczema. Recently, more studies support the outside-in hypothesis due to the discovery of the loss-of-function mutation within the filaggrin gene in 2006. However, there are aspects of the inside-out hypothesis that have not been explored before. Thus, for future recommendations, more studies should be focused on the inside-out hypothesis and using plants to reduce aspects within this hypothesis. This chapter promotes the advantages of plant compounds that possess anti-eczematous properties. Furthermore, this chapter promotes the need to analyze indigenous plants for anti-eczematous properties using the same methods of extraction as traditional healers.
Hereditary Prostate Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Veda N. Giri, Jennifer Beebe-Dimmer, Kathleen A. Cooney
The importance of germline DNA repair gene mutations in prostate cancer was significantly heightened based on results from several recent publications. Leongamornlert et al. [31] sequenced 22 tumor suppressor genes in germline DNA from 191 men with hereditary prostate cancer. Fourteen men (7.3%) were found to have a loss of function mutation in one of eight genes, all in the DNA repair pathway, and the prostate cancers in these men were statistically more likely to be clinically advanced disease. Robinson et al. [32] reported integrative tumor sequencing data from 150 men with castrate-resistant prostate cancer (CRPCa) and identified DNA repair/recombination gene alterations in 23% of cases with the majority of samples having biallelic alterations. Germline mutations in BRCA1/2 or ATM occurred in 13/150 (8.7%) of cases. A larger multisite study of 692 men with metastatic prostate cancer found an even higher rate of germline mutations (11.8%) [6]. These studies emphasize the genetic enrichment resulting from selecting for study men with clinically aggressive, late-stage disease, as opposed to most previous studies which included either unselected prostate cancer cases, some of which were clinically insignificant, or men solely selected on the basis of positive family history, regardless of clinical aggressiveness.
Allergic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Adam Fox, George Du Toit, Stephan Strobel
Familial genetic predisposition and other genetic factors relating to the skin barrier and the immune response, play an important part in the underlying mechanism of eczema. Filaggrin (FLG), situated on chromosome 1q21, is an abundantly expressed protein in the outer layers of the epidermis and plays a crucial role in skin barrier formation and protection against ultraviolet radiation. Approximately 10% of Europeans are heterozygous carriers of a loss of function mutation in FLG. Carriers of the FLG mutation are at significantly increased risk of atopic dermatitis, contact allergy, asthma and hayfever and patients with atopic dermatitis who carry the FLG mutation appear to be predisposed to more severe, persistent forms of the disease and possibly to peanut allergy.
Advancements in ocular gene therapy delivery: vectors and subretinal, intravitreal, and suprachoroidal techniques
Published in Expert Opinion on Biological Therapy, 2022
Kyle D Kovacs, Thomas A Ciulla, Szilárd Kiss
Clinical trials are underway for a number of monogenic IRDs, including achromatopsia, choroideremia, LCA, retinitis pigmentosa (RP), Stargardt disease, and X-linked retinoschisis, among numerous others [24]. A list of clinical trials underway in the United States as of April 2022 is presented in Table 1. In general, gene-based strategies for IRDs can be divided into two types based on the underlying molecular pathogenesis of the disease: 1) autosomal recessive (AR) or X-linked recessive (XLR) disease, in which there are loss-of-function mutations; and 2) autosomal dominant (AD) diseases in which aberrant protein formation yields gain-of-function mutations. For the former, gene augmentation or replacement is typically employed. This combats the loss-of-function mutation with the delivery of genetic material, or gene-altering material, to enhance the production of defunct proteins. Differentiating AR/XRL and AD diseases thus dictates which constructs may be considered for the development of an applicable gene therapy. By requiring a unique therapy for each disease, applicable treatment populations are small and treatment costs high [25,26]. Further discussion of approaches to gene therapy follows in section 3.
Improving genetic diagnostics of skeletal muscle channelopathies
Published in Expert Review of Molecular Diagnostics, 2020
Vinojini Vivekanandam, Roope Männikkö, Emma Matthews, Michael G. Hanna
Our understanding of phenotypes associated with sodium channel mutations has markedly improved recently, particularly with the appreciation of pediatric phenotypes. Homozygous partial loss of function mutations in SCN4A cause congenital myasthenia or mild to moderate congenital myopathy [80]. Compound heterozygous mutations with one partial loss of function mutation and one null mutation appear to cause more severe congenital myopathy. While these associations require further elucidation, the insight into life-threatening phenotypes has been clinically significant.
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia
Published in Ophthalmic Genetics, 2020
Kaylie D. Jones, Alina Radziwon, David G. Birch, Ian M. MacDonald
This report demonstrates the pathogenicity of a novel SVA insertion in the CHM gene leading to choroideremia. mRNA analysis and protein expression studies demonstrate the skipping of exon 2 leading to the absence of detectable REP-1 expression. This type of loss-of-function mutation is likely a rare event, although pathogenic retrotransposon insertions have been recently reported more frequently (18).