Neurochemical Approaches to the Pathogenesis of Down's Syndrome

Balázs, R.; Brooksbank, B. W. L.

doi:10.1111/j.1365-2788.1985.tb00302.x

Cited by 11 publications

(5 citation statements)

References 74 publications

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“…At this regard, it is interesting to remember that zinc exerts a critical physiological role on the structure and functions of biomembranes (Bettger & O'Dell, 1981;Maro & Bornens, 1979;Rao, 1982). Membrane alterations of many cell types, including lymphocytes, have been repeatedly described in DS (Chiricolo et ai, 1984;Balazs & Brookbank, 1985). Further studies are also needed to evaluate the potentially beneficial effects of zinc treatment on other important non immunological parameters, which are known to be affected by zinc and which are altered in DS, such as weight and growth and, though less probable, brain functions (Burnet, 1981;Gershwin et aL, 1985;Frederikson, 1985).…”

Section: Discussionmentioning

confidence: 99%

Oral zinc supplementation in Down's syndrome: restoration of thymic endocrine activity and of some immune defects

Franceschi

Chiricolo

Licastro

et al. 1988

J intellect Disabil Res

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Eighteen non‐institutionalized Down's syndrome (DS) children (mean age: 7.0±10/12 years) with a history of respiratory tract, auditory and skin infections, low pi a sin.i levels of a nonapeptide thymic hormone, i.e. Serum Thymic Factor (STF), high plasma levels of inactive zinc‐unbound STF molten les, and reduced absolute number of circulating T‐lymphocytes, were given an oral non‐pharmacological supplementation of zinc sulphate (1 mg Zn ++/kg body weight/day for 2 months; two cycles, 10 months apart) and monitored immunologicalty before and after each cycle. A dramatic increase of plasma STF level and concomitantly an almost complete disappearance of inactive STF molecules was observed after each cycle. The absolute number of circulating T‐lymphocytes was significantly increased by zinc treatment, The marginal zinc deficiency was also corrected without any appreciable influence on copper plasma levels. A reduction of recurrent infections and an improvement in school utiendance after zinc supplementation wore recorded. These beneficial effects of zinc supplementation were also noted in those DS children who did not show an apparent zinc deficiency, as assessed by measuring zinc plasma level. The reduced number of circulating B lymphocytes and the impaired lymphocyte responsiveness in phytohaemagglutinin and concanavalin A were not restored. On the whole, these findings suggest that there exists a defect in the bio‐availability and/or in the utilization of zinc in DS, This alteration, of unknown origin, can be underestimated on the simple basis of the zinc plasma level and can be corrected with moderate nutritional zinc supplementation.

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Section: Discussionmentioning

confidence: 99%

Oral zinc supplementation in Down's syndrome: restoration of thymic endocrine activity and of some immune defects

Franceschi

Chiricolo

Licastro

et al. 1988

J intellect Disabil Res

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“…The anomalities in purine metabolism which are reported here might operate via a membrane defect. Indeed, it has been reported that activation of guanylate cyclase occurs as a result of uncompensated superoxide dismutase activity and associated lipoperoxidation (Balazs & Brooksbank 1985).…”

Section: Down's Syndrome Patients Zvith Psychotic Complicationsmentioning

confidence: 99%

Differences in purine metabolism in patients with Down's syndrome

Peeters¹,

Mégarbané²,

Cattaneo³

et al. 1993

J intellect Disabil Res

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ABSTRACT. Three enzymes intervening in de novo purine synthesis, as well as cystathionine B‐synthetase, have been mapped to chromosome 21. In order to gain a better understanding of purine synthesis anomalies in Down's syndrome, the present authors studied the variations in mitotic index of lymphocyte cultures to which various inhibitors or metabolites of purine synthesis had been added. In spite of common gene dosage effects, unexpected and highly significant differences were noted between Down's syndrome patients without complications and those presenting with additional psychotic features. In Down's syndrome patients without complications, a highly significant decrease in mitotic index was noted in the presence of exogenous inosine. A significant decrease in the presence of adenosine and guanosine was also noted. These findings are in keeping with the expected metabolic repercussions of genes mapped to chromosome 21. In Down's syndrome patients with psychotic complications, the in vitro reactions were quite different. A paradoxal increase in mitotic index was noted in the presence of inosine and of adenosine, but the response to guanosine did not differ from that observed in normal controls. These findings were unexpected and seem to indicate that, in spite of the gene dosage effect, psychotic Down's syndrome patients are unable to compensate abnormal purine synthesis and resulting imbalances. Furthermore, a marked difference in purine metabolic reactions was noted between Down's syndrome patients receiving supplemental folic/folinic acid and those on no therapy. This suggests that some modulation of the gene dosage effect may be possible.

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“…Balazs and Brooksbank [8] noticed that the adaptive response to elevated SOD-1 activity, i.e., increased GSHPx activity found in other tissues, is not detected in the fetal DS brain. The level of GSHPx activity in neural tissues seems to be as such too low to provide protection from peroxide-induced lesions [84].…”

Section: Down Syndromementioning

confidence: 98%

“…Our primary survey and theory of antioxidant therapy in DS [42,217] rest on the present concepts of the etiopathogenesis of DS [8,79]. Earlier, selected antioxidants have been used, e.g., in the therapy of neuronal ceroid lipofuscinosis [218].…”

Section: Advances In the Development Of Novel Antioxidant Therapiesmentioning

confidence: 99%

Personalized Management of Selected Neurological Disorders

Ekvall¹,

Westermarck²,

Havia³

et al. 2020

Personalized Medicine, in Relation to Redox State, Diet and Lifestyle

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Neurological disorders are medically complex diseases that affect the central and peripheral nervous systems. They can affect an entire neurological pathway or a single neuron. Some neurological problems can present years after a causative event. The World Health Organization reports that various types of neurological disorders affect millions of people around the world. So far, there are no therapies available to cure these disorders. Pharmacological and non-pharmacological interventions can at best relieve symptoms and perhaps delay the progression of the disease. However, there are a wide variety of helpful treatments for different disorders that may help an individual to learn better social skills and communication cues, in order to help them be able to interact socially, in a more natural fashion. For some neurological issues, the outlook can be quite good with treatment and adequate rehabilitation. Diet also plays an important role in the prevention of late-life cognitive decline. Deficits in cognition, low dietary quality and physical functioning, and cardio-metabolic risk factors are frequently reported in patients with neurological disorders. In this chapter we will briefly discuss research, as well as current opportunities and future prospects towards personalized medicine in relation to selected neurological disorders and diseases such as Down syndrome, neuronal ceroid lipofuscinoses (NCLs), and multiple sclerosis (MS).

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Neurochemical Approaches to the Pathogenesis of Down's Syndrome

Cited by 11 publications

References 74 publications

Oral zinc supplementation in Down's syndrome: restoration of thymic endocrine activity and of some immune defects

Oral zinc supplementation in Down's syndrome: restoration of thymic endocrine activity and of some immune defects

Differences in purine metabolism in patients with Down's syndrome

Personalized Management of Selected Neurological Disorders

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