Normal Aging and Dementia

Prendecki, Michał; Florczak-Wyspiańska, Jolanta; Kowalska, Margarita Lianeri Marta; Kozubski, Wojciech; Dorszewska, Jolanta

doi:10.5772/64203

Cited by 14 publications

(12 citation statements)

References 85 publications

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“…ApoE quantification in K 3 EDTA plasma was performed by the ELISA method (MABTECH, Sweden) on EPOCH spectrophotometer (Bio-TEK, USA), as previously described [50].…”

Section: Methodsmentioning

confidence: 99%

“…ApoE is encod-ed by the APOE gene, located on chromosome 19. Our previous studies pointed out that the apoE level may vary in healthy individuals before 60 years of age depending on APOE genetic status and age or gender of subjects [50]. The APOE locus houses two well-known polymorphisms, the rs7412 and rs429358 whose variants distinguish three common APOE alleles: protective E2, neutral, most common in population E3 and pathogenic E4.…”

Section: Introductionmentioning

confidence: 99%

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APOE genetic variants and apoE, miR-107 and miR-650 levels in Alzheimer’s disease

Prendecki¹,

Florczak-Wyspiańska²,

Kowalska³

et al. 2019

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Alzheimer's disease (AD) is a progressive neurodegenerative dementia in adults. Pathogenesis of AD depends on various factors, including APOE genetic variants, apolipoprotein E (apoE) phenotype and oxidative stress, which may promote both DNA and RNA damage, including non-coding RNA (ncRNA). Among ncRNAs, microRNA (miRNA) is known to contribute to pathologic processes in AD. The aim of the study was to analyse the plasma concentration of apoE by ELISA as well as the plasma levels of miR-107 and miR-650 by qPCR in relation to APOE genetic variants and clinical features including the age of onset and dementia severity in 64 AD patients and 132 controls. Our data showed that a low apoE plasma concentration was a risk factor for developing AD (OR = 5.18, p = 6.58E-06) and was particularly pronounced in severe dementia (p < 0.001) and correlated with cognitive functions (R = 0.295, p = 0.020), similarly as the level of miR-650 (R = 0.385, p = 0.033). The presence of APOE E4 allele in both AD patients and controls led to a reduction in apoE, while APOE E3/E3 genotype was associated with an increased apoE concentration and level of miR-107 in AD (p < 0.05) which was inversely correlated with the number of APOE E4 alleles (R =-0.448, p = 0.009). Additionally, patients with the onset at 60-69 years of age showed a reduced level of miR-107 (p < 0.05, as compared to AD above 80 years of age). Changed levels of plasma apoE, miR-107 and miR-650 may be a marker of the neurodegenerative process in the course of AD, associated with amyloid β metabolism and inordinate cell cycle.

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“…ApoE quantification in K 3 EDTA plasma was performed by the ELISA method (MABTECH, Sweden) on EPOCH spectrophotometer (Bio-TEK, USA), as previously described [50].…”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

APOE genetic variants and apoE, miR-107 and miR-650 levels in Alzheimer’s disease

Prendecki¹,

Florczak-Wyspiańska²,

Kowalska³

et al. 2019

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“…The HRMA of MTHFR C677T polymorphism using CFX Connect™ Real-Time System (Bio-Rad, USA) was performed according to the protocol published by Norambuena et al [26]. The genotyping of APOE polymorphism was performed according to a modified mismatch primer method also on CFX Connect™ Real-Time PCR Detection System (Bio-Rad, USA) [28].…”

Section: Genetic Analysesmentioning

confidence: 99%

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL

Dorszewska

Kowalska

Grzegorski

et al. 2020

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Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary, progressive ischemic disease of small vessels of the brain characterized by migraine with aura (MA), recurrent subcortical ischemic episodes, cognitive decline and psychiatric disorders. CADASIL is caused by mutations in the NOTCH3 gene. We identified the NOTCH3 Y189C mutation as a genetic cause of CADASIL in a Polish family and provided its first clinical manifestation. Material and methods: The study included twelve subjects from one family. The NOTCH3 mutation, APOE and MTHFR polymorphisms were determined by high-resolution melting analyses (HRMA) and Sanger sequencing. Neuroimaging included CT and MRI. Ultrastructural examination of skin-muscle biopsy material of the proband was performed. Results: The NOTCH3 Y189C mutation was present in a 36-year-old woman and her two sisters (aged 40 and 27) from 6 siblings. The MA was found in all of them, and started or became more severe after childbirth. The numerous T2/FLAIR hyperintense lesions were shown in the brain MRI. The deposition of granular osmiophilic material in the wall of small vessels of the proband observed in histopathological analysis confirmed the high degree of CADASIL severity. Conclusions: Patients with the Y189C mutation of NOTCH3 from the same family display a similar phenotype of CADASIL.

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“…AD is the most common form of dementia in older adults [132]. AD is a progressive incurable neurodegenerative disease where aging is the primary risk factor.…”

Section: Alzheimer's Diseasementioning

confidence: 99%

Aging and Neurological Diseases

Kowalska¹,

Owecki²,

Prendecki³

et al. 2017

Senescence - Physiology or Pathology

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Current knowledge indicates that the aging process starts with subclinical changes at the molecular level. These include the accumulation of mutations, telomere attrition, and epigenetic alterations leading to genomic instability. Such defects multiply exponentially over time, resembling a "snowball effect," and eventually leading to morphological and functional deterioration of the brain, including progressive neuronal loss, reduced levels of neurotransmitters, excessive inflammation, and disrupted integrity of vessels, followed by infarction and microbleeds. Additionally, the decreasing efficiency of DNA repair mechanisms increases the susceptibility to reactive oxygen species and spontaneous mutagenesis, resulting in age-related neoplasia. Moreover, the malnutrition and malabsorption seen commonly in the elderly may cause deficiency of vitamin B 12 and folic acid, both necessary for homocysteine metabolism, and lead to vascular damage. Altogether, these lead to brain damage in old age and greatly increase the risk of developing diseases of the central nervous system, such as stroke, epilepsy, Parkinson's disease, Alzheimer's disease, and other dementias.

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Normal Aging and Dementia

Cited by 14 publications

References 85 publications

APOE genetic variants and apoE, miR-107 and miR-650 levels in Alzheimer’s disease

APOE genetic variants and apoE, miR-107 and miR-650 levels in Alzheimer’s disease

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL

Aging and Neurological Diseases

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