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Dystrophia Myotonica
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
This condition is inherited in an autosomal dominant fashion, being transmitted by a mutant gene on the long arm of chromosome 19. Treatment is limited to ameliorating the complications. If the myotonia is severe, phenytoin is the treatment of choice: the other anti-myotonia agents such as quinine and procainamide may aggravate any co-existing cardiac conduction defect.
Interleukin-11: Molecular Biology. Biological Activities, and Possible Signaling Pathways
Published in Andrzej Mackiewicz, Irving Kushner, Heinz Baumann, Acute Phase Proteins, 2020
In situ hybridization of metaphase chromosomes with IL-11 cDNA has localized IL-11 on the long arm of human chromosome 19 at 19q13.313.4.4 Interestingly, several zincfinger genes19 and genes involved in lipoprotein metabolism, including apolipoproteins, E, CI, and CII,20 have all been mapped to the nearby region. Furthermore, a chromosome 19q- specific repetitive sequence has been found to repeat four times in the intron of the apolipoprotein CII sequence.21 This repetitive sequence, however, does not share sequence similarity with the 30-bp repeats in the fourth intron of the IL-11 gene. Interestingly, this region of chromosome 19 has been shown to be associated with recurring translocation in neoplastic cells in certain patients with chronic lymphocytic leukemia.22 Moreover, axl, a transforming gene encoding a novel receptor tyrosine kinase isolated from primary human myeloid leukemia cells, has been mapped to the 19q13.2 region.23
Familial hypercholesterolemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
FH is caused by mutations in the LDLR gene. The gene has been mapped to the short arm of chromosome 19, at p13.1-13.3. A very large number and variety of mutations have been defined [8], and there are now two websites (www.ucl.ac.uk/fh/ and www.umd.necker.fr) [9–11]. The most common, class 1 mutations (Table 84.1) are null alleles in the sense that there is no immunoprecipitable receptor protein [12]. Mutations have been defined in each of the classes. Homozygous individuals may have two identical mutant alleles, or they may be compound heterozygotes, who inherited a different allele from each parent.
The successful strategy of comprehensive pre-implantation genetic testing for beta-thalassaemia–haemoglobin E disease and chromosome balance using karyomapping
Published in Journal of Obstetrics and Gynaecology, 2022
Sirivipa Piyamongkol, Suchada Mongkolchaipak, Pimlak Charoenkwan, Rungthiwa Sirapat, Wanwisa Suriya, Tawiwan Pantasri, Theera Tongsong, Wirawit Piyamongkol
Karyomapping provided additional chromosome balance information indicating three embryos with chromosome unbalance, i.e. 45, XY,-19 (embryo A5, affected), 47, XY,+16 (embryo A6, beta-thalassaemia trait) and 47, XX,+21 (embryo A8, beta-thalassaemia trait) (Figures 1 and 2). The beneficial nature of the aSNP was also evidenced by revealing the parental origins of embryonic aneuploidy. The absence of chromosome 19 in embryo A5 was maternal. The gain of chromosome 16 in embryo A6 and the gain of chromosome 21 in embryo A8 were maternal. Although karyomapping results can be obtained from all embryos, the quality of the DNA was not good enough to provide CNV information from embryo A3. Therefore, four normal (three male, A10, A11, A12 and one female, A9) and one Hb E trait (female, A7) embryos were identified for possible transfer. One normal male (male, A10) embryo was chosen for transfer and one normal male baby was delivered. Prenatal DNA testing confirmed PGT results (Table 1).
Nitric oxide pathway as a plausible therapeutic target in autism spectrum disorders
Published in Expert Opinion on Therapeutic Targets, 2022
Rishab Mehta, Anurag Kuhad, Ranjana Bhandari
The human leukocyte antigen (HLA) gene on chromosome 6 and killer cell immunoglobulin-like receptor (KIR) gene on chromosome 19 are reported to be associated with an enhanced risk of developing ASD [40]. A chromosome 15 phenotype has been identified having an altered sequence of the 15q11-15q13 region thus, causing cytogenetic abnormalities characterized by dysmorphic facial features, mental retardation, epilepsy, language delay, and repetitive movements [41,42]. The RELN gene found in the 7q22 region of chromosome 7 is suspected to be associated with neuronal migration and prenatal neuronal development [43]. The polymorphism of the MET gene found in 7q31 is known to affect the development of the cerebellum and cerebral cortex [44]. Various evidence-based studies suggest that disrupted MET signaling also leads to gastrointestinal dysfunction [45]. Alterations in chromosome 16 and chromosome 2 are also predicted to play a part in the occurrence of mental retardation, gastrointestinal alterations, and CNS disorders in patients with ASDs [6].
Elevated circulating growth differentiation factor 15 is related to decreased heart rate variability in chronic kidney disease patients
Published in Renal Failure, 2021
Lulu Wang, Jing Luo, Wenjin Liu, Xiaoqin Huang, Jie Xu, Yang Zhou, Lei Jiang, Junwei Yang
Growth differentiation factor 15 (GDF15) is a protein of the transforming growth factor beta (TGFβ) superfamily. It was first separated from a U937 subtraction cDNA library and originally named macrophage inhibitory factor 1 (MIC-1) [3]. It was subsequently given the official designation of growth differentiation factor 15 (GDF15) [4] and is also known as prostate differentiation factor, placental TGF-beta, and nonsteroidal anti-inflammatory drug-activated protein-1 [5]. Human GDF15 is localized on chromosome 19 and consists of two exons separated by an intron. GDF15 is first synthesized as an inactive precursor protein with 308 amino acids with a 29-amino-acid signal peptide at the N-terminal region. It is then separated by furin at an RXXR site to yield a propeptide and a mature peptide; the latter is secreted as a dimeric protein of 224 amino acids with a molecular weight of approximately 25 KDa [6,7] and is regarded as the active form of GDF15. GDF15 can specifically bind to GDNF family receptor α-like (GFRAL) with high affinity and forms a complex with RET, the transmembrane tyrosine kinase coreceptor, which subsequently activates intracellular signaling pathways, thereby facilitating several biological effects [8,9]. Previous studies have suggested a link between GDF15 and CVD. A study by Wollert found higher plasma GDF15 levels in patients with cardiovascular events, and the effect was an independent cardiovascular risk factor [10]. However, animal experiments led to diverse conclusions that the protein could inhibit the development of atherosclerosis [11].