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Definition, risk factors, and epidemiology of osteoporosis
Published in Peter V. Giannoudis, Thomas A. Einhorn, Surgical and Medical Treatment of Osteoporosis, 2020
In a Japanese population of postmenopausal women, a study of single nucleotide polymorphism (SNP) associated with BMD reported the existence of an increased risk of hip fractures in women with one or two risk phenotypes (GG and AG) of the 98 coupling receptor G protein (GPR98) (61). Studies in animal models using GPR98 knockout mice have explained these data by reference to a significant impairment of bone characteristics such as BMD and mechanical fragility, together with a high expression of RANKL-induced osteoclastogenesis and osteoclasts (61). In postmenopausal women with low BMD, the results obtained from the gene expression analysis of B cells, confirmed by real-time polymerase chain reaction (PCR) gene amplification, identified 29 repressed genes, including estrogen receptor 1 (ESR1), mitogen-activating protein kinase 3 (mapk3), CpG methylation-binding protein 2 (MECP2), phosphatase-interacting protein 1 (PSTPIP1), Scr-like-adapter (SLA), serine/threonine kinase 11 (STK11), WNK lysine-deficient protein kinase 1 (WNK1), and zinc finger protein 446 (ZNF446) (62).
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Shasha Huang, Yongyi Yuan, Yu Lu, Dejun Zhang, Xiaobin Wang, Huijun Yuan, Weiju Han, Pu Dai
Usher syndrome (USH) is an autosomal recessive disease that is classically defined by the combination of sensorineural hearing loss (SNHL), visual loss, and occasionally vestibular dysfunction. USH may be responsible for approximately 10% of deafness cases and 50% of deaf–blindness cases, with a worldwide prevalence ranging from approximately 1 to 4 per 25,000 [1–3]. Twelve genes have been implicated in the etiology of USH and three major clinical subtypes (USH1, USH2, and USH3) are distinguished by the progression of hearing loss, age at onset of visual loss due to retinitis pigmentosa (RP), and the status of vestibular function. USH1, which accounts for 10 ∼ 35% of all USH cases, is the most severe form, presenting with congenital severe-to-profound SNHL, prepubertal onset of RP, and vestibular dysfunction. Six genes are linked to USH1: MYO7A, CDH23, PCDH15, USH1C, USH1G, and CIB2. Of these, MYO7A is responsible for 70% of USH1 [4,5]. USH2, which accounts for 50 ∼ 65% of all USH cases, is the most common type and is characterized by moderate to severe SNHL, postpubertal onset RP, and normal vestibular function. Three genes have been implicated in USH2, namely USH2A, GPR98, and DFNB31, and mutations in USH2A are associated with 85% of USH2 cases [4,6]. USH3, which accounts for 2 ∼ 5% of USH in many populations, except Finnish and Ashkenazi Jewish populations, involves postlingual progressive deafness, variable onset of RP, and sporadic vestibular dysfunction. Three genes are known to cause USH3: CLRN1, HARS, and PDZD7 [7].
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
Published in Ophthalmic Genetics, 2018
Marianna E. Ivanova, Vladimir N. Trubilin, Dmitry S. Atarshchikov, Andrey M. Demchinsky, Vladimir V. Strelnikov, Alexander S. Tanas, Olga M. Orlova, Anton S. Machalov, Kira V. Overchenko, Tatiana V. Markova, Daria M. Golenkova, Kirill I. Anoshkin, Ilya V. Volodin, Dmitry V. Zaletaev, Andrey A. Pulin, Irina I. Nadelyaeva, Alexey I. Kalinkin, Debmalya Barh
Compared to other cohorts, in our Russian cohort we observed less frequency (39.28%, N = 11/28) of patients showing clinical symptoms of USH2. However, the frequency was quite higher as compared to Algerian cohort (11.20%) (2,11). Mutations in USH2 are most common in USH2A (55%–90%) followed by GPR98 (3%–5.6%) Table 2. Importantly, 90.90% (N = 10/11) of the patients diagnosed with clinical symptoms of USH2 have shown to carry mutations in USH2A gene confirming the disease at molecular level (Table 1). Twelve mutations were detected in this gene and in most cases (80%, N = 8/10) the patients carry two different mutations. Among the 11 variations detected in USH2A gene 27.27% (N = 3/10) are novel (p.S1939*, p.C3570F), and c.11048–2A> G) (Figure 2d, Table 1). There is no full length USH2A gene therapy protocol available so far. However, the recently demonstrated CRISPR system based USH2A gene editing (24) may be considered for these patients.
Association of killer cell immunoglobulin-like receptor (KIR) genes and their HLA ligands with susceptibility to Behçet’s disease
Published in Scandinavian Journal of Rheumatology, 2018
H Mohammad-Ebrahim, E Kamali-Sarvestani, M Mahmoudi, M Beigy, J Karami, N Ahmadzadeh, F Shahram
Primers and PCR conditions were based on previous studies by Vilches et al, Gagne et al, Tajik et al, and Chainonthee et al (38–43) (Table 1). PCR-SSP reactions were carried out in the presence of growth hormone genes 1 and 2 (GH1 and GH2), HLA-DR, and G protein-coupled receptor 98 (GPR98) primers, as internal controls (Table 1). The mixture used to achieve 10 µL volume reaction was 1 µL of PCR buffer (10×), 0.32 µL (50 mM) MgCl2, 0.25 µL (10 mM) of deoxynucleoside triphosphate (dNTP), 1.28 µL (10 pmol) of forward and reverse KIR-specific primers each, 0.32 µL (10 pmol) of forward and reverse internal control primers each, 5.13 µL water and 0.1 µL (5 U/µL) of Taq DNA polymerase. Temperature cycling conditions for PCR were as follows: denaturation for 2 min at 94ºC, followed by 10 cycles for 10 s at 94ºC, 60 s at 65ºC, and also followed by 20 cycles with denaturation 10 s at 94ºC, annealing 50 s at 61ºC, and a final extension for 30 s at 72ºC, and storage for 5 min at 4ºC. All PCRs were amplified with the PCR system ABI/2720 (Applied Biosystems, Foster City, CA, USA). Annealing temperature was modified to 65ºC for primers amplifying HLA-B-Bw4. PCR products were visualized under ultraviolet light after electrophoresis in 2% agarose gel.