A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans

Prasad, Rathi; Hughes, Claire; Li, Chan; Peters, Catherine; Nathwani, Nisha; Clark, Adrian; Storr, Helen; Metherell, Louise

doi:10.1530/endoabs.31.oc2.5

Cited by 3 publications

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“…The role of the thioredoxin (Txn)/Txnrd system in protection from oxidative damage has been reported (Kuster, Siwik, Pimentel, & Colucci, ). Therefore, the loss of Txnrd2 was associated with impaired glucose metabolism, leading to glucocorticoid deficiency in humans (Prasad et al, ). We speculated that the potential regulation of selenoproteins on glucose metabolism might be performed through the mediation of glucose metabolism‐related factors, such as the Akt and GLUTs family.…”

Section: Discussionmentioning

confidence: 99%

miR‐200a‐5p augments cardiomyocyte hypertrophy induced by glucose metabolism disorder via the regulation of selenoproteins

Yang

Liu

Cao

et al. 2018

Journal Cellular Physiology

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Selenium and selenoproteins are identified as potential determinants in pathological cellular hypertrophy. Cardiomyocytes hypertrophy is a compensatory form of heart disease characterized by increased size of cardiomyocytes. However, the link between cardiac hypertrophy and Se-specific microRNA (miRNA) remains to be characterized. In the current study, we established a miR-200a-5p mimic and an inhibitor cardiomyocytes model. Cardiomyocytes hypertrophy was induced in the miR-200a-5p mimic group. Hence, we detected the glucose level of cardiomyocytes to estimate the cellular glucose uptake. The effect of miR-200a-5p overexpression and the low expression on 25 selenoproteins mRNA levels was further explored using reverse transcription polymerase chain reaction. Overexpression of miR-200a-5p elevated glucose uptake and Txnrd2, 3 expression and reduced Sepp1, Seln, Selt, and Sep15 expression in cardiomyocytes. Contrary results were observed in cardiomyocytes with the knockdown of miR-200a-5p. We next assessed glucose metabolism-related genes in cardiomyocytes. The results showed that miR-200a-5p had a negative correlation with insulin-like growth factor gene-1, insulin-like growth factor binding protein (IGFBP)1, IGFBP2, IGFBP3, IGFBP4, and IGFBP5 and had a positive correlation with Akt, glucose transporter family (GLUT)2, GLUT3, and GLUT4. These results support the involvement of selenoproteins and glucose metabolism in the control of cardiomyocytes hypertrophy by Se-specific miRNA, suggesting that miR-200a-5p inhibited the expression of stress-related selenoproteins to alter glucose transport leading to glucose metabolism disorder, eventually inducing cardiomyocytes hypertrophy. Our finding highlights a pivotal role of Se-specific miRNA and selenoproteins in cardiac hypertrophy.

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Section: Discussionmentioning

confidence: 99%

miR‐200a‐5p augments cardiomyocyte hypertrophy induced by glucose metabolism disorder via the regulation of selenoproteins

Yang

Liu

Cao

et al. 2018

Journal Cellular Physiology

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“…Assumption 1: In each population, everyone has the equal probability to marry 59 other people and to give a birth to a baby. 60 For population j , the distribution P of individuals for all the patterns can be 61 counted. P = [p 0 , p 1 , p 2 ], where p i is the percentage of the individuals with pattern i .…”

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confidence: 99%

Locating suspicious lethal genes by abnormal distributions of SNP patterns

Ding

2019

Preprint

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A gene, a locatable region of genomic sequence, is the basic functional unit of heredity. Differences in genes lead to the various congenital physical conditions of people. One kind of these major differences are caused by genetic variations named single nucleotide polymorphisms(SNPs). SNPs may affect splice sites, protein structures and so on, and then cause gene abnormities. Some abnormities will lead to fatal diseases. People with these diseases have a small probability of having children. Thus the distributions of SNP patterns on these sites will be different with distributions on other sites. Based on this idea, we present a novel statistical method to detect the abnormal distributions of SNP patterns and then to locate the suspicious lethal genes. We did the test on HapMap data and found 74 suspicious SNPs. Among them, 10 SNPs can map reviewed genes in NCBI database. 5 genes out of them relate to fatal children diseases or embryonic development, 1 gene can cause spermatogenic failure, the other 4 genes are also associated with many genetic diseases. The results validate our idea. The method is very simple and is guaranteed by a statistical test. It is a cheap way to discover the suspicious pathogenic genes and the mutation site. The mined genes deserve further study.

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Locating potentially lethal genes using the abnormal distributions of genotypes

Ding

Zhu

2019

Sci Rep

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Genes are the basic functional units of heredity. Differences in genes can lead to various congenital physical conditions. One kind of these differences is caused by genetic variations named single nucleotide polymorphisms (SNPs). An SNP is a variation in a single nucleotide that occurs at a specific position in the genome. Some SNPs can affect splice sites and protein structures and cause gene abnormalities. SNPs on paired chromosomes may lead to fatal diseases so that a fertilized embryo cannot develop into a normal fetus or the people born with these abnormalities die in childhood. The distributions of genotypes on these SNP sites are different from those on other sites. Based on this idea, we present a novel statistical method to detect the abnormal distributions of genotypes and locate the potentially lethal genes. The test was performed on HapMap data and 74 suspicious SNPs were found. Ten SNP maps “reviewed” genes in the NCBI database. Among them, 5 genes were related to fatal childhood diseases or embryonic development, 1 gene can cause spermatogenic failure, and the other 4 genes were associated with many genetic diseases. The results validated our method. The method is very simple and is guaranteed by a statistical test. It is an inexpensive way to discover potentially lethal genes and the mutation sites. The mined genes deserve further study.

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A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans

Cited by 3 publications

References 0 publications

miR‐200a‐5p augments cardiomyocyte hypertrophy induced by glucose metabolism disorder via the regulation of selenoproteins

miR‐200a‐5p augments cardiomyocyte hypertrophy induced by glucose metabolism disorder via the regulation of selenoproteins

Locating suspicious lethal genes by abnormal distributions of SNP patterns

Locating potentially lethal genes using the abnormal distributions of genotypes

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