Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI

Dembure, Philip P.; Janko, Anita R.; Priest, Jean H.; Elsas, Louis J.

doi:10.1016/0026-0495(87)90155-7

Cited by 20 publications

(8 citation statements)

References 24 publications

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“… 28 , 33 , 42 , 44 , 48 Two patients with spEDS- SLC39A13 (2/8, 25%) presented with varicose veins, 5 and one patient with kEDS- PLOD1 (1/54, 2%) presented with a DVT from compression stasis, which was treated by fasciotomy. 93 All of these patients were over the age of 40 years, except for the kEDS- PLOD1 patient, who presented with a DVT at the age of 15 years. 93 …”

Section: Resultsmentioning

confidence: 99%

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt

Damme

Malfait

2018

Genetics in Medicine

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PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among “nonvascular” EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications.ResultsA total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS.ConclusionPotentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.

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Section: Resultsmentioning

confidence: 99%

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

D’hondt

Damme

Malfait

2018

Genetics in Medicine

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“…Hydroxylysine is necessary for formation of the intermolecular cross-links in collagen. In addition, specific carbohydrate residues are linked glycosidically to collagen through hydroxylysine, a process that may be important in the regulation of crosslink formation [58,59].…”

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confidence: 99%

An Overview of the Characteristics and Function of Vitamin C in Various Tissues: Relying on its Antioxidant Function

Akbari

Jelodar

Nazifi

et al. 2016

Zahedan J Res Med Sci

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Vitamin C (L-ascorbic acid or ascorbate) is a biomolecule that participates in many biochemical processes. It is an essential nutrient for humans, however, in some species such as rodents and guinea pigs is synthesized. It has a variety of functions in the body that we might venture to say make it a very important antioxidant nature and pro-oxidant. L-ascorbic acidic a reduced form of vitamin C and dehydroascorbic acid (DHA) is the oxidized form of ascorbate, both L-ascorbic acid and dihydroascorbic acid retain the vitamin C activity. Dehydro-ascorbate is reconverted to ascorbate in the cytosol by cytochrome b reductase and thioredoxin reductase in reactions involving NADH and NADPH, respectively. Ascorbate is transported into the cell via the sodium-dependent vitamin C transporters (SVCTs), which causes accumulation of ascorbate within cells against a concentration gradient. Dehydroascorbic acid, the oxidized form of ascorbate, is transported via glucose transporters family (GLUTs). The highest concentrations of ascorbate in the body are found in brain and adrenal gland. Vitamin C also acts as a co-factor in several enzyme reactions. This vitamin is an essential biochemical factor in the reproductive process. The pharmacophore of vitamin C is the ascorbate, ascorbate is an antioxidant.Ascorbate is a neuromodulator of glutamatergic and dopaminergic system and related behaviors. It also improves components of the immune system. Given the wide role of ascorbate, further investigation is necessary to evaluate the exact mechanism(s) underlying these effects. In this review we will consider a short overview of the characteristics and function of vitamin C (relying on antioxidant function) in various tissues.

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“…A point mutation in the gene coding the enzyme collagen lysyl hydroxylase (Miller et al 1979) results in much lower than normal levels of hydroxylysine in collagen. This molecular lesion is accompanied by clinical lesions that are attributable to an underlying impairment of collagen structure, characterised by an excess of deoxypyridinoline and a paucity of pyridinoline (Pinnell et al 1972;Elsas et al 1978;Dembure et al 1987;Pasquali et al 1997). Both the clinical abnormalities and the extent of collagen lysyl hydroxylation have been shown to respond favourably to high oral doses of vitamin C (Elsas et al 1978).…”

Section: Discussionmentioning

confidence: 99%

Vitamin C status and collagen cross-link ratios in Gambian children

2005

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Vitamin C (ascorbate) is essential for hydroxylation of prolyl and lysyl residues in nascent collagen, the failure of which leads to connective tissue lesions of scurvy. Of the pyridinium-type cross-links in mature collagen, pyridinoline requires more hydroxylysyl residues than does deoxypyridinoline. Our study tested the hypothesis that pyridinoline:deoxypyridinoline ratios in urinary degradation products may vary with ascorbate status in man. These ratios were compared between British and Gambian prepubertal boys, mean age 8·3 years, and in Gambian boys between two seasons with contrasting ascorbate availability. The mean cross-links ratio in 216 British boys was 4·36 (SD 0·71), significantly greater (P,0·0001) than in sixty-two Gambian boys: 3·83 (SD 0·52). In the Gambians the cross-links ratio was significantly higher in the dry season (with high ascorbate intake and status) than in the rains (with low intake and status). A 7-week controlled intervention was carried out in Gambian boys during the rainy season (the 'hungry' season, when vitamin C-containing foods are virtually unavailable): 100 mg ascorbate/d was given to one group of thirty-two Gambian boys and placebo to another group. The intervention did not, however, significantly alter the cross-link ratio, possibly because the response time and/or intervention-response delay is .7 weeks. If confirmed, the putative association between ascorbate and collagen cross-link ratios in man could become the basis for a functional test for adequacy of ascorbate status.

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Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI

Cited by 20 publications

References 24 publications

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

An Overview of the Characteristics and Function of Vitamin C in Various Tissues: Relying on its Antioxidant Function

Vitamin C status and collagen cross-link ratios in Gambian children

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