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Applications of Pluripotent Stem Cells in the Therapy and Modeling of Diabetes and Metabolic Diseases
Published in Deepak A. Lamba, Patient-Specific Stem Cells, 2017
Suranjit Mukherjee, Shuibing Chen
Generating human β cells in vitro will provide a therapeutic purpose in delivering glucose-responsive insulin-producing cells to treat diabetic patients. Early studies were able to demonstrate the key step of endoderm specification of hESCs through activin A and WNT signaling. The second stage of the stepwise differentiation is the specification toward pancreatic progenitors. Based on our knowledge of pancreatic development, fibroblast growth factor (FGF) 7 or FGF10, cyclopamine–KAAD or SANT-1 (hedgehog inhibitors), retinoic acid, dorsomorphin (a bone morphogenetic protein [BMP] inhibitor), SB431542 (a TGFβ inhibitor), and/or Noggin (a BMP inhibitor) have been tested in this step. A combination treatment with these chemicals and growth factors produces a heterogeneous population containing around 40–60% PDX1+ cells (a pancreatic marker) for in vitro differentiation from hESCs/iPSCs. In addition, (−)-indolactam V (a protein kinase C [PKC] activator) was identified from an unbiased high-content chemical screen and identified as a top candidate to increase both the number and the percentage of pancreatic progenitors (12). The follow-up work from two groups shows that (−)-indolactam V promotes the generation of pancreatic progenitors from iPSCs derived from T1DM patients (13) and healthy patients, respectively. The current differentiation protocol containing FGF7/10, cyclopamine–KAAD, retinoic acid, Noggin, and PKC activators gives rise to a heterogeneous population with 60–80% PDX1+ cells. It has been shown that this heterogeneous population is able to differentiate into glucose-responding cells after transplantation into immunodeficient mice and protects them from streptozotocin-induced hyperglycemia. Analysis of grafts from these transplants demonstrated that the progenitors matured into monohormonal insulin-positive β cells that expressed PDX1, NKX6.1, MAF bZIP transcription factor A (MAFA), and c-peptide (14,15). More recently, the same group reported that the purified pancreatic progenitors show a similar differentiation potential as the heterogeneous population. Building on these results allows for the study of the components constituting an in vivo environment that support β cell maturation.
Association of Genetic Polymorphisms of TERT with Telomere Length in Coke Oven Emissions-Exposed Workers
Published in International Journal of Environmental Health Research, 2022
Mengqing Yan, Shuai Cheng, Sihua Wang, Xiaoran Duan, Acquaye Reuben Mensah, Lei Li, Yuhong Zhang, Guoyu Li, Junfeng Zhao, Feifei Feng, Xiaoshan Zhou, Yongjun Wu, Yongli Yang, Wei Wang
This research adopts the principle of focusing on important functional SNP sites and supplemented by susceptible SNP sites, which is innovative and comprehensive in research. Mainly through: (1) Functional SNP: Find the research gene promoter 5’near gene),5’UTR, exon (missense, synonymous), functional SNP sites in the3’UTR region (MAF >.05, according to Hapmap or 1000 Genomes database). Next, search for SNP sites in the Splice region variant and Upstream gene variant regions of the gene in Ensembl (http://asia.ensembl.org/index.html/), and add them to the functional SNP sites. (2) Susceptible SNP: Search the research literature of candidate gene-related SNP loci in NCBI PubMed and Google Scholar databases, and screen out susceptible SNP loci. After screening, the sites with lower allele frequencies are eliminated according to the number of samples in the study.
The polymorphisms in cGAS-STING pathway are associated with mitochondrial DNA copy number in coke oven workers
Published in International Journal of Environmental Health Research, 2022
Xiaohua Liu, Xinling Li, Wan Wei, Yahui Fan, Zhifeng Guo, Xiaoran Duan, Xiaoshan Zhou, Yongli Yang, Wei Wang
In this study, we analyzed functional SNP loci as the main factor and susceptible SNP loci as an auxiliary. We screened the functional regions of SNPs in the gene region, promoter proxy 5’near gene), 5’UTR, exon (missense and synonymous), and3’UTR region through NCBI-SNP database (http://www.ncbi.nlm.nih.gov/snp/) (MAF >0.05, according to Hapmap or 1000 Genomes database). Furthermore, we searched the susceptible SNP loci and the candidate gene-related SNP loci by searching the research studies in the databases, including NCBI PubMed and Google Scholar. Finally, we determined four SNPs in cGAS gene, and four SNPs in STING gene.
Genetics of congenital cataract, its diagnosis and therapeutics
Published in Egyptian Journal of Basic and Applied Sciences, 2018
Luqman Khan, Nargis Shaheen, Qaisar Hanif, Shah Fahad, Muhammad Usman
The genesis of congenital cataract is still not discovered well and very little is identified because of lack of modern techniques, long-term accurate data required and the lack of intense investigative techniques. Various set of symptoms and infections prior birth suggestion to the malformations in the eye and helps in congenital cataracts development. Although various causes have been bringing into being, the particular aetiology is often difficult to determine, mostly in the patient’s sufferings from unilateral hereditary cataracts, clinically and genetically heterogeneous situation [12]. In addition, different mutations in the identical gene are able to cause similar cataract forms, in spite of the fact that the similar mutation in a distinct gene might clue to dissimilar phenotypes are indicated by variable morphologies of cataracts in few families. Isolated congenital cataracts are likely to be expressively autosomal dominant with penetrant Mendelian charismas are more common than autosomal recessive cataract. Many of these are related with additional abnormalities, mainly as a portion of developing syndromes. The key cytoplasmic proteins of human lens are encoded by mutations in different genes and are linked with cataracts of different morphologies, containing genes encoding crystallin (CRYA, CRYB, and CRYG), lens specific connexin (Cx43, Cx46, and Cx50), major intrinsic protein (MIP) or Aquaporin, paired-like homeodomain transcription factor 3 (PITX3), avian musculoaponeurotic fibrosarcoma (MAF), cytoskeletal structural proteins and heat shock transcription factor 4 (HSF4) [13]. An important concern is an αB-crystallin gene, CRYAB, which is extensively appeared in different tissues mainly in the muscle. Mutations in CRYAB can cause a range of defects ranging from isolated cataracts to minor cataracts linked with myopathy. Another example is the ferritin gene that gives rise to the hyperferritinemia-cataract syndrome [13].