The Genetics of Alzheimer’s Disease in the Chinese Population

Gan, Chen‐Ling; Zhang, Tao; Lee, Tae Ho

doi:10.3390/ijms21072381

Cited by 10 publications

(5 citation statements)

References 126 publications

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“…Aβ42 is prone to aggregate and is the major component of amyloid plaques [102]. There have been about 60 mutations reported for APP and most of the pathogenic mutations are clustered in exons 16 and 17 that encode the cleavage sites for βand γ-secretase [103]. APP is alternatively spliced into as many as 11 different mRNA transcripts.…”

Section: Admentioning

confidence: 99%

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

McIntosh

Mastaglia

et al. 2021

Transl Neurodegener

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Precursor messenger RNA (pre-mRNA) splicing is a fundamental step in eukaryotic gene expression that systematically removes non-coding regions (introns) and ligates coding regions (exons) into a continuous message (mature mRNA). This process is highly regulated and can be highly flexible through a process known as alternative splicing, which allows for several transcripts to arise from a single gene, thereby greatly increasing genetic plasticity and the diversity of proteome. Alternative splicing is particularly prevalent in neuronal cells, where the splicing patterns are continuously changing to maintain cellular homeostasis and promote neurogenesis, migration and synaptic function. The continuous changes in splicing patterns and a high demand on many cis- and trans-splicing factors contribute to the susceptibility of neuronal tissues to splicing defects. The resultant neurodegenerative diseases are a large group of disorders defined by a gradual loss of neurons and a progressive impairment in neuronal function. Several of the most common neurodegenerative diseases involve some form of splicing defect(s), such as Alzheimer’s disease, Parkinson’s disease and spinal muscular atrophy. Our growing understanding of RNA splicing has led to the explosion of research in the field of splice-switching antisense oligonucleotide therapeutics. Here we review our current understanding of the effects alternative splicing has on neuronal differentiation, neuronal migration, synaptic maturation and regulation, as well as the impact on neurodegenerative diseases. We will also review the current landscape of splice-switching antisense oligonucleotides as a therapeutic strategy for a number of common neurodegenerative disorders.

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Section: Admentioning

confidence: 99%

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

McIntosh

Mastaglia

et al. 2021

Transl Neurodegener

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“…Cognitive dysfunction not only causes the patient's occupational and social abilities to decline or even be lost, it also causes heavy physical and mental stress to caregivers, and it also brings huge economic pressure to patients' families and society. [16,17] According to statistical reports, [18] in China the cost of cognitive impairment can increase from US$ 47.2 billion in 2010 each year to US $69 billion in 2020. As a common disease of the elderly, AD and sporadic CSVD is manifested by chronic, progressive cognitive decline.…”

Section: Introductionmentioning

confidence: 99%

The cognitive dysfunction related to Alzheimer disease or cerebral small vessel disease

Liang

Gong

et al. 2021

Medicine

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Alzheimer disease (AD) and sporadic cerebral small vessel disease (CSVD) are common cognitive disorders. Both AD and CSVD have mental symptoms including chronic progressive cognitive impairment, dysfunction, and behavioral abnormalities. However, the differences on the cognitive dysfunction of AD and CSVD remain unclear. It is necessary to elucidate the cognitive dysfunction differences of AD and CSVD, and to identify the potential risk factors. AD or sporadic CSVD patients treated in our hospital from December 1, 2018 to May 31, 2019 were included. And we selected healthy participants as controls. The mini-mental state examination and Montreal Cognitive Assessment Scale were used for neuropsychological assessment, and related medical information were collected and compared. A total of 190 patients were included. The total mini-mental state examination scores in AD, CSVD group were significantly less than that of control group, there were significant differences in the domains of directional ability, attention and computing ability, delayed recall, and visual perception (all P < .05); the total Montreal Cognitive Assessment Scale scores in AD, CSVD group were significantly less than that of control group. There were significant differences in the domains of visual space and execution, immediate remember, attention and computing ability, language, delayed recall, and directional ability (all P < .05); diabetes was a risk factor both for AD (hazard ratio = 1.63, 95% confidence interval: 1.35–1.97) and CSVD (hazard ratio = 1.15, 95% confidence interval: 1.08–1.27). The cognitive dysfunctions of AD are difference to that of CSVD patients, and diabetes is the risk factor both for AD and CSVD, future studies are needed to further identify the prevention and treatment of AD and CSVD.

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“…Despite the fact that AD has a variety of associated risk factors including genetics, lifestyle, and environmental, 12,39–42 it is unclear why diverse ethnic groups experience such large differential health outcomes compared to NHWs. Additionally, many questions remain about the implication of different genes, proteins, pathways, and related networks in disease manifestation 2–4,20–22,24,43–46 . Further investigation into these pathways may also aid accurate diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Additionally, many questions remain about the implication of different genes, proteins, pathways, and related networks in disease manifestation. 2 , 3 , 4 , 20 , 21 , 22 , 24 , 43 , 44 , 45 , 46 Further investigation into these pathways may also aid accurate diagnosis. Currently, there is no curative treatment for AD that has proven effective.…”

Section: Discussionmentioning

confidence: 99%

Top Alzheimer's disease risk allele frequencies differ in HABS‐HD Mexican‐ versus Non‐Hispanic White Americans

Housini,

Zhou,

Gutierrez

et al. 2023

Alz & Dem Diag Ass & Dis Mo

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INTRODUCTION: Here we evaluate frequencies of the top 10 Alzheimer's disease (AD) risk alleles for late‐onset AD in Mexican American (MA) and non‐Hispanic White (NHW) American participants enrolled in the Health and Aging Brain Study–Health Disparities Study cohort.METHODS: Using DNA extracted from this community‐based diverse population, we calculated the genotype frequencies in each population to determine whether a significant difference is detected between the different ethnicities. DNA genotyping was performed per manufacturers’ protocols.RESULTS: Allele and genotype frequencies for 9 of the 11 single nucleotide polymorphisms (two apolipoprotein E variants, CR1, BIN1, DRB1, NYAP1, PTK2B, FERMT2, and ABCA7) differed significantly between MAs and NHWs.DISCUSSION: The significant differences in frequencies of top AD risk alleles observed here across MAs and NHWs suggest that ethnicity‐specific genetic risks for AD exist. Given our results, we are advancing additional projects to further elucidate ethnicity‐specific differences in AD.

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The Genetics of Alzheimer’s Disease in the Chinese Population

Cited by 10 publications

References 126 publications

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies

The cognitive dysfunction related to Alzheimer disease or cerebral small vessel disease

Top Alzheimer's disease risk allele frequencies differ in HABS‐HD Mexican‐ versus Non‐Hispanic White Americans

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