Elevated concentrations of elements and abnormalities of neuromuscular junctions in tongue muscles of Down's syndrome

Yarom, R.; Sherman, Yoav; Sagher, U; Peled, Isaac J.; Wexler, Menachem R.; Gorodetsky, Raphael

doi:10.1016/0022-510x(87)90238-3

Cited by 22 publications

(11 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cu/Zn-SOD transgenic mice also exhibit signs of premature aging and neuromuscular dysfunction (30 -32, 648). The neuromuscular junctions of the leg muscles from these mice were found to exhibit pathological changes that are similar to those observed in the skeletal muscle tissue of aging rats and mice (95,172) and in the tongue muscles of individuals with Down's syndrome (646,647).…”

Section: Neurodegenerative Diseasesmentioning

confidence: 53%

Free Radicals in the Physiological Control of Cell Function

Dröge

2002

Physiological Reviews

8,364

5,836

View full text Add to dashboard Cite

At high concentrations, free radicals and radical-derived, nonradical reactive species are hazardous for living organisms and damage all major cellular constituents. At moderate concentrations, however, nitric oxide (NO), superoxide anion, and related reactive oxygen species (ROS) play an important role as regulatory mediators in signaling processes. Many of the ROS-mediated responses actually protect the cells against oxidative stress and reestablish “redox homeostasis.” Higher organisms, however, have evolved the use of NO and ROS also as signaling molecules for other physiological functions. These include regulation of vascular tone, monitoring of oxygen tension in the control of ventilation and erythropoietin production, and signal transduction from membrane receptors in various physiological processes. NO and ROS are typically generated in these cases by tightly regulated enzymes such as NO synthase (NOS) and NAD(P)H oxidase isoforms, respectively. In a given signaling protein, oxidative attack induces either a loss of function, a gain of function, or a switch to a different function. Excessive amounts of ROS may arise either from excessive stimulation of NAD(P)H oxidases or from less well-regulated sources such as the mitochondrial electron-transport chain. In mitochondria, ROS are generated as undesirable side products of the oxidative energy metabolism. An excessive and/or sustained increase in ROS production has been implicated in the pathogenesis of cancer, diabetes mellitus, atherosclerosis, neurodegenerative diseases, rheumatoid arthritis, ischemia/reperfusion injury, obstructive sleep apnea, and other diseases. In addition, free radicals have been implicated in the mechanism of senescence. That the process of aging may result, at least in part, from radical-mediated oxidative damage was proposed more than 40 years ago by Harman ( J Gerontol 11: 298–300, 1956). There is growing evidence that aging involves, in addition, progressive changes in free radical-mediated regulatory processes that result in altered gene expression.

show abstract

Section: Neurodegenerative Diseasesmentioning

confidence: 53%

Free Radicals in the Physiological Control of Cell Function

Dröge

2002

Physiological Reviews

8,364

5,836

View full text Add to dashboard Cite

show abstract

“…SOD-1 overexpression in transfected cell lines results in lipid peroxidation [ElroyStein et al, 1986] and causes cellular degeneration in adrenocortical cells [Norris and Hornsby, 1990]. Transgenic mice overexpressing human SOD-1 exhibit increased brain lipid peroxidation similar to that observed in DS subjects [Yarom et al, 1987]. Macrophages, erythrocytes and lymphoid cells from children with DS show enhanced superoxide production and lipid peroxidation [Capone et al, 2002].…”

Section: Neurobiology Of Ad: the Role Of Oxidative Stressmentioning

confidence: 93%

Alzheimer's disease in Down syndrome: Neurobiology and risk

Zigman¹,

Lott²

2007

Ment. Retard. Dev. Disabil. Res. Rev.

241

221

View full text Add to dashboard Cite

Down syndrome (DS) is characterized by increased mortality rates, both during early and later stages of life, and age-specific mortality risk remains higher in adults with DS compared with the overall population of people with mental retardation and with typically developing populations. Causes of increased mortality rates early in life are primarily due to the increased incidence of congenital heart disease and leukemia, while causes of higher mortality rates later in life may be due to a number of factors, two of which are an increased risk for Alzheimer's disease (AD) and an apparent tendency toward premature aging. In this article, we describe the increase in lifespan for people with DS that has occurred over the past 100 years, as well as advances in the understanding of the occurrence of AD in adults with DS. Aspects of the neurobiology of AD, including the role of amyloid, oxidative stress, Cu/ZN dismutase (SOD-1), as well as advances in neuroimaging are presented. The function of risk factors in the observed heterogeneity in the expression of AD dementia in adults with DS, as well as the need for sensitive and specific biomarkers of the clinical and pathological progressing of AD in adults with DS is considered.

show abstract

“…b) Hypotonia (Muscle weakness) There is strong evidence for hypotonia in Down's syndrome muscles (McIntire and Dutch 1964). Yarom et al (1987) found evidence of degeneration of nerve endings and changes in the end plates of neuromuscular junctions in tongue tissue removed from people with Down's syndrome in surgery. They suggest that this may be responsible for hypotonia in their tongues.…”

Section: Glossarymentioning

confidence: 99%

“…In addition, some researchers, including Ardran and his colleagues (1972), the only researcher who used objective X-ray measures, have suggested that macroglossia in Down's syndrome is an illusion due to the small size of the oral cavity; the need to mouth breathe because of a small nasopharynx (the upper part of the throat) and frequent upper respiratory tract infections; enlargement of the lingual tonsil in some cases; hypotonia of the tongue and lower lip; and forward position of the mandible with underdeveloped nasal and maxillary bones (the central part of the face) (Cohen and Winer 1965;Krmpotic-Nemanic and Schulz 1970;Ardran, Harker and Kemp 1972;Purdy, Deitz and Harris 1987;Yarom, Sherman, Sagher, Peled, Wexler and Gorodetsky 1987).…”

Section: Glossarymentioning

confidence: 99%

Investigation of the articulatory patterns of young adults with Down syndrome using electropalatography

Hamilton¹

1993

Downs Syndr. Res. Pract.

View full text Add to dashboard Cite

Elevated concentrations of elements and abnormalities of neuromuscular junctions in tongue muscles of Down's syndrome

Cited by 22 publications

References 21 publications

Free Radicals in the Physiological Control of Cell Function

Free Radicals in the Physiological Control of Cell Function

Alzheimer's disease in Down syndrome: Neurobiology and risk

Investigation of the articulatory patterns of young adults with Down syndrome using electropalatography

Contact Info

Product

Resources

About