Molecular genetic analysis of the human sorbitol dehydrogenase gene

Carr, Ian; Markham, AF

doi:10.1007/bf00352373

Cited by 22 publications

(8 citation statements)

References 33 publications

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“…The gene for SORD has also been cloned enabling the entire polyol pathway to be studied at a molecular level [73][74][75]. It is possible that the high levels of ALR2 enzyme activity and protein are genetically determined due to polymorphisms either in the coding or, promoter region of the gene.…”

Section: Polymorphisms Of the Aldose Reductase (Alr2) Genementioning

confidence: 99%

Polymorphisms of the Aldose Reductase Gene and Susceptibility to Diabetic Microvascular Complications

Ag¹

2003

CMC

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Diabetes is a major cause of mortality and morbidity due to the long term microvascular complications of this disease. There is now convincing evidence to show that genetic factors together with elevated blood glucose play an important role in the susceptibility to diabetic nephropathy as well as retinopathy. The polyol pathway is thought to play an important role in the pathogenesis of diabetic microvascular complications. Aldose reductase is the first and rate-limiting enzyme of the polyol pathway. Polymorphisms in the promoter region as well as elsewhere in the gene have been associated with susceptibility to nephropathy, retinopathy as well as diabetic neuropathy. These associations have been replicated in patients with either type 1 or type 2 diabetes mellitus as well as across ethnic groups. These polymorphisms in the promoter region are also associated with expression of the gene. Although clinical trials using inhibitors of aldose reductase to treat diabetic microvascular complications have largely been unsuccessful, the identification of the susceptibility genes may help in the design of future drug regimens.

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Section: Polymorphisms Of the Aldose Reductase (Alr2) Genementioning

confidence: 99%

Polymorphisms of the Aldose Reductase Gene and Susceptibility to Diabetic Microvascular Complications

Ag¹

2003

CMC

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“…In Drosophila, SDH enzymatic activity is at its lowest level during the larval stages, with the highest level of activity during adulthood (Bischoff, 1978). Accumulation of sorbitol decreases the level of sdh expression, which is observed in response to increased glucose concentrations in human diabetics (Carr and Markham, 1995;Nagasaka et al, 1988). Low-temperature treatment increases the expression of sdh in diapause eggs (Banfield et al, 2001;Teruyuki and Toshinobu, 1992).…”

Section: Discussionmentioning

confidence: 93%

Cloning and expression of the sorbitol dehydrogenase gene during embryonic development and temperature stress in Artemia sinica

Wang

Hou

Zhao

et al. 2013

Gene

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“…For example, SORD is the second enzyme of the polyol pathway (involved in glycolysis), which catalyzes the conversion of sorbitol to fructose and is highly expressed in the kidney ( 44 ). Due to the polymorphic variation of the SORD gene, both the accumulation and toxicity of sorbitol are associated with the development of microvascular problems ( 45 ), which may be one of underlying risk factors for HNS. Furthermore, SORD and aldolase B, another upregulated gene, are both implicated in the sorbitol pathway, which is closely associated with hyperglycemia ( 46 ).…”

Section: Discussionmentioning

confidence: 99%

Investigation into the underlying molecular mechanisms of hypertensive nephrosclerosis using bioinformatics analyses

Liu

Shang

et al. 2018

Mol Med Report

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Hypertensive nephrosclerosis (HNS) is a major risk factor for end-stage renal disease. However, the underlying pathogenesis of HNS remains to be fully determined. The gene expression profile of GSE20602, which consists of 14 glomeruli samples from patients with HNS and 4 normal glomeruli control samples, was obtained from the Gene Expression Omnibus database. Gene ontology (GO) and pathway enrichment analyses were performed in order to investigate the functions and pathways of differentially expressed genes (DEGs). Pathway relation and co-expression networks were constructed in order to identify key genes and signaling pathways involved in HNS. In total, 483 DEGs were identified to be associated with HNS, including 302 upregulated genes and 181 downregulated genes. Furthermore, GO analysis revealed that DEGs were significantly enriched in the small molecule metabolic process. In addition, pathway analysis also revealed that DEGs were predominantly involved in metabolic pathways. The tricarboxylic acid (TCA) cycle was identified as the hub pathway in the pathway relation network, whereas the sorbitol dehydrogenase (SORD) and cubulin (CUBN) genes were revealed to be the hub genes in the co-expression network. The present study revealed that the SORD, CUBN and albumin genes as well as the TCA cycle and metabolic pathways are involved in the pathogenesis of HNS. The results of the present study may contribute to the determination of the molecular mechanisms underlying HNS, and provide insight into the exploration of novel targets for the diagnosis and treatment of HNS.

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Molecular genetic analysis of the human sorbitol dehydrogenase gene

Cited by 22 publications

References 33 publications

Polymorphisms of the Aldose Reductase Gene and Susceptibility to Diabetic Microvascular Complications

Polymorphisms of the Aldose Reductase Gene and Susceptibility to Diabetic Microvascular Complications

Cloning and expression of the sorbitol dehydrogenase gene during embryonic development and temperature stress in Artemia sinica

Investigation into the underlying molecular mechanisms of hypertensive nephrosclerosis using bioinformatics analyses

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