Markers of neural degeneration and regeneration in Down syndrome patients

Abdel-Meguid, Iman Ehsan; Abdelsalam, Eman M. Nagiub; Latif, Doaa M Abdel; Korraa, Soheir; Ismaiel, Amal

doi:10.1016/j.ejmhg.2012.08.008

Cited by 3 publications

(2 citation statements)

References 36 publications

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“…These findings were not shown to correlate with either maternal or gestational age (Bartha & Soothill, ). In adolescents (ages 10–15) with DS, Abdel‐Meguid, Abdel‐Salam, Abdel Latif, Korraa, and Ismaiel () found a significant increase in plasma Aβ1‐42 concentrations when compared to individuals with DS under the age of 10.…”

Section: Resultsmentioning

confidence: 97%

“…Additional biomarkers of neuronal degeneration aside from Aβ1‐42 have been examined in adolescents with DS as compared to younger children with DS. Abdel‐Meguid and colleagues () found a significant increase in advanced glycation end production receptors (RAGES) leucocytes. This same research also found a decrease in biomarkers related to neuronal regeneration (i.e., Nestin, CD34) in individuals with DS as compared to healthy controls pointing out a disproportionate balance between the process of degeneration and regeneration particularly among younger individuals with DS (Abdel‐Meguid et al, ).…”

Section: Resultsmentioning

confidence: 99%

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Blood‐based biomarkers for Down syndrome and Alzheimer's disease: A systematic review

Petersen

O’Bryant

2019

Developmental Neurobiology

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Down syndrome (DS) occurs due to triplication of chromosome 21. Individuals with DS face an elevated risk for development of Alzheimer's disease (AD) due to increased amyloid beta (Aβ) resulting from the over‐expression of the amyloid precursor protein found on chromosome 21. Diagnosis of AD among individuals with DS poses particular challenges resulting in an increased focus on alternative diagnostic methods such as blood‐based biomarkers. The aim of this review was to evaluate the current state of the literature of blood‐based biomarkers found in individuals with DS and particularly among those also diagnosed with AD or in prodromal stages (mild cognitive impairment [MCI]). A systematic review was conducted utilizing a comprehensive search strategy. Twenty‐four references were identified, of those, 22 fulfilled inclusion criteria were selected for further analysis with restriction to only plasma‐based biomarkers. Studies found Aβ to be consistently higher among individuals with DS; however, the link between Aβ peptides (Aβ1‐42 and Aβ1‐40) and AD among DS was inconsistent. Inflammatory‐based proteins were more reliably found to be elevated leading to preliminary work focused on an algorithmic approach with predominantly inflammatory‐based proteins to detect AD and MCI as well as predict risk of incidence among DS. Separate work has also shown remarkable diagnostic accuracy with the use of a single protein (NfL) as compared to combined proteomic profiles. This review serves to outline the current state of the literature and highlights the potential plasma‐based biomarkers for use in detecting AD and MCI among this at‐risk population.

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Section: Resultsmentioning

confidence: 97%

Section: Resultsmentioning

confidence: 99%

Blood‐based biomarkers for Down syndrome and Alzheimer's disease: A systematic review

Petersen

O’Bryant

2019

Developmental Neurobiology

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Biomarkers of Cognitive Decline and Dementia in Down Syndrome

Pais,

Talib,

Forlenza

2023

Biomarkers in Neuropsychiatry

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Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase

Mengel

Glynn

et al. 2020

Alz Res Therapy

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Background Down syndrome (DS) is the most common genetic cause of Alzheimer’s disease (AD), but diagnosis of AD in DS is challenging due to the intellectual disability which accompanies DS. When disease-modifying agents for AD are approved, reliable biomarkers will be required to identify when and how long people with DS should undergo treatment. Three cardinal neuropathological features characterize AD, and AD in DS—Aβ amyloid plaques, tau neurofibrillary tangles, and neuronal loss. Here, we quantified plasma biomarkers of all 3 neuropathological features in a large cohort of people with DS aged from 3 months to 68 years. Our primary aims were (1) to assess changes in the selected plasma biomarkers in DS across age, and (2) to compare biomarkers measured in DS plasma versus age- and sex-matched controls. Methods Using ultra-sensitive single molecule array (Simoa) assays, we measured 3 analytes (Aβ42, NfL, and tau) in plasmas of 100 individuals with DS and 100 age- and sex-matched controls. Tau was measured using an assay (NT1) which detects forms of tau containing at least residues 6–198. The stability of the 3 analytes was established using plasma from ten healthy volunteers collected at 6 intervals over a 5-day period. Results High Aβ42 and NT1 tau and low NfL were observed in infants. Across all ages, Aβ42 levels were higher in DS than controls. Levels of Aβ42 decreased with age in both DS and controls, but this decrease was greater in DS than controls and became prominent in the third decade of life. NT1 tau fell in adolescents and young adults, but increased in older individuals with DS. NfL levels were low in infants, children, adolescents, and young adults, but thereafter increased in DS compared to controls. Conclusions High levels of Aβ42 and tau in both young controls and DS suggest these proteins are produced by normal physiological processes, whereas the changes seen in later life are consistent with emergence of pathological alterations. These plasma biomarker results are in good agreement with prior neuropathology studies and indicate that the third and fourth decades (i.e., 20 to 40 years of age) of life are pivotal periods during which AD processes manifest in DS. Application of the assays used here to longitudinal studies of individuals with DS aged 20 to 50 years of age should further validate the use of these biomarkers, and in time may allow identification and monitoring of people with DS best suited for treatment with AD therapies.

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Markers of neural degeneration and regeneration in Down syndrome patients

Cited by 3 publications

References 36 publications

Blood‐based biomarkers for Down syndrome and Alzheimer's disease: A systematic review

Blood‐based biomarkers for Down syndrome and Alzheimer's disease: A systematic review

Biomarkers of Cognitive Decline and Dementia in Down Syndrome

Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase

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