Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts

Vaca, G; Ibarra, B; Bracamontes, M.; Garcı́a-Cruz, Diana; Sánchez‐Corona, José; C, Medina; Wunsch, Camile; González-Quiroga, G; Cantú, J. M.

doi:10.1007/bf00276598

Cited by 17 publications

(16 citation statements)

References 8 publications

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“…Theoretically, a sorbitol dehydrogenase (SORD) deficiency could lead to sorbitol accumulation in lenses, among other tissues, and eventually to cataracts. Recently, we investigated this assumption in the population at risk and found a family with congenital cataracts and red blood cell SORD deficiency [2]. Although our results did not define a clear cataract-SORD deficient aetiopathogenic relationship, they strongly suggest activity polymorphism in red blood cell SORD.…”

Section: Discussioncontrasting

confidence: 63%

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Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes

et al. 1984

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Summary.Screening for red blood cell sorbitol dehydrogenase deficiency in 12 different mammalian species was performed. A wide inter-species variability in red cell sorbitol dehydrogenase with a virtually complete deficiency in pigs was observed. Aldose reductase and sorbitol dehydrogenase activities in 12 different pig tissues also were measured. Aldose reductase activity was present in all the tissues studied, whereas organ specificity for sorbitol dehydrogenase was observed.Sorbitol dehydrogenase activity was not detectable in lenses, among other tissues, making the pig a potential model for studies in experimental diabetes, particularly for the investigation of sorbitol dehydrogenase deficiency as a risk factor in the development of cataracts.Key words: Aldose reductase, animal models, cataracts, diabetes, red blood cells, sorbitol dehydrogenase.Sorbitol and galactitol are involved in the pathogenesis of diabetic and galactosemic cataracts in man and experimental animals [1]. Theoretically, a sorbitol dehydrogenase (SORD) deficiency could lead to sorbitol accumulation in lenses, among other tissues, and eventually to cataracts. Recently, we investigated this assumption in the population at risk and found a family with congenital cataracts and red blood cell SORD deficiency [2]. Although our results did not define a clear cataract-SORD deficient aetiopathogenic relationship, they strongly suggest activity polymorphism in red blood cell SORD. The role that SORD deficiency may play in the development of diabetic complications could be studied in an animal model with low levels of this enzyme. Red blood cell SORD activity in several mammals has been demonstrated previously [3].The aim of this study was to screen for red blood cell SORD deficiency in animals. These results, as well as those for aldose reductase (AR) and SORD activities in several pig tissues, are presented. Materials and methods Animal materialBlood was drawn and collected in heparin from more than 10 mature animals from each of 12 species: 15 Syrian hamster; 20 balc/C mice; 29 Fort Detrick Dunkin Hartley strain guinea pigs; 20 Sprague-Dawley rats; 17 beagle dogs; 20 New Zealand rabbits; 22 Merino sheep; 10 cattle (Cebu); 10 cattle (Holstein); 20 donkeys; 20 pigs; 19 goats; and 10 horses, all four species mixed breed. Pig tissues were obtained from the slaughter house within 60 rain of butchering and stored at --20 ~ MethodsHomogenates of tissues were prepared according to the method of Op't Hof [4]. The SORD activity in the haemolysates from all the animals was assayed in duplicate by the fluorometric method of Vaca et al. [5] and in pig tissues by the spectrophotometric method of King and Mann [6]. AR was assayed in pig tissues, and in red blood cells of five members of each studied species and five human adults by the spectrophotometric method of Hayman and Kinoshita [7] using DLglyceraldehyde as substrate. Protein determinations were performed according to the method of Lowry et al [8].

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Section: Discussioncontrasting

confidence: 63%

“…A high variability in red cell SORD activity was observed in almost all species including human red cell SORD and may represent activity polymorphism [2]. A virtually complete red celt SORD deficiency was observed in all the pigs studied.…”

Section: Discussionmentioning

confidence: 85%

Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes

et al. 1984

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“…All these ADH enzymes belong to a family of proteins, also including sorbitol dehydrogenase (SDH) and [-crystallin (Jornvall et al, 1991). SDH deficiency has been linked with diabetic pathological conditions, such as cataract formation (Gabbay, 1973;Vaca et al, 1982); early cataract formation is also associated with a deletion mutant of c-crystallin (BorrBs et al, 1990;Huang et al, 1990). Recently, rat liver SDH has been cloned and characterized (Karlsson et al, 1991).…”

mentioning

confidence: 99%

Distribution of alcohol and sorbitol dehydrogenases

Estonius

Danielsson

Karlsson

et al. 1993

European Journal of Biochemistry

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The tissue distribution of mRNA of alcohol dehydrogenases of classes I, II and III, and sorbitol dehydrogenase, was studied. mRNA from 19 different rat tissues was purified and analyzed by Northern blots, utilizing cDNA probes specific for the four dehydrogenases. Class‐I alcohol‐dehydrogenase mRNA was shown to be of widespread occurrence, detectable in all tissues including brain, but with pronounced differences in amounts. Hybridization revealed the pattern of occurrence of class‐II alcohol‐dehydrogenase mRNA to be unique, with transcripts only in the liver, duodenum, kidney, stomach, spleen and testis. Abundant levels of class‐III alcohol‐dehydrogenase (glutathione‐dependent formaldehyde dehydrogenase) mRNA were present in all tissues analyzed, reflecting the general need for scavenging of formaldehyde in physiological cytoprotection. Sorbitol dehydrogenase mRNA was detected in all tissues except small intestine, in agreement with sorbitol resorbtion by passive diffusion in this tissue. In addition, evidence for a sex‐specific expression, in the liver, of class‐II alcohol dehydrogenase was obtained.

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“…The results of GSH were expressed as nmol/g. applying the method of Vaca et al [37], using Boeco S-20 Spectrophotometer, Hamburg, Germany. One unit was defined as U/g Hb.…”

Section: Determination Of Erythrocytes Oxidative Stress Markersmentioning

confidence: 99%

“…AR activity is increased with increasing glucose levels as in hyperglycemia, because AR has a very high Km for glucose. Thus, the rate of reduction of glucose to sorbitol increases with increasing glucose levels in tissues that do not require insulin for glucose uptake like lens due to the AR activation [37,64].…”

Section: Oxidative Stress Markersmentioning

confidence: 99%

The Role and Prevalence of Polyol Pathway and Oxidative Stress Markers as Risk Factors for Diabetic Cataract in Adult Type-I Diabetic and Diabetic Cataract Saudi Patients

Alwadani¹,

Saif²

2016

J Clin Exp Ophthalmol

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Diabetes mellitus (DM) is a chronic disease characterized by hyperglycemia and its prevalence is rising globally. Prolonged exposure to uncontrolled chronic hyperglycemia can lead to various complications in the eye including cataract. Cataract is characterized by cloudiness or opacification of the eye lens which is the leading cause of sight loss and visual disability. It has been reported that diabetes mellitus is a major problem in the management of blindness and cataract surgery.

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Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts

Cited by 17 publications

References 8 publications

Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes

Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes

Distribution of alcohol and sorbitol dehydrogenases

The Role and Prevalence of Polyol Pathway and Oxidative Stress Markers as Risk Factors for Diabetic Cataract in Adult Type-I Diabetic and Diabetic Cataract Saudi Patients

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