ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer’s Disease

Qian, Xiaohang; Chen, S.; Liu, Xiaoli; Tang, Huibin

doi:10.1007/s12035-023-03414-8

Cited by 5 publications

(2 citation statements)

References 83 publications

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“…for their association with AD endophenotypes, such as amyloid deposition, tau pathology, brain morphology, and various clinical symptoms, which has been extensively reviewed before. 38,50 Shortly, multiple genetic markers were associated with increased amyloid pathology, which has been replicated in several studies, 38,[51][52][53][54] which could be indicative for a role of ABCA7 dysfunction in the amyloid pathway. Evidence for association with tau pathology has been more inconsistent.…”

Section: Common Variantsmentioning

confidence: 84%

The ABC's of Alzheimer risk gene ABCA7

Duchateau,

Wawrzyniak,

Sleegers

2024

Alzheimer's & Dementia

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Alzheimer's disease (AD) is a growing problem worldwide. Since ABCA7’s identification as a risk gene, it has been extensively researched for its role in the disease. We review its recently characterized structure and what the mechanistic insights teach us about its function. We furthermore provide an overview of identified ABCA7 mutations, their presence in different ancestries and protein domains and how they might cause AD. For ABCA7 PTC variants and a VNTR expansion, haploinsufficiency is proposed as the most likely mode‐of‐action, although splice events could further influence disease risk. Overall, the need to better understand expression of canonical ABCA7 and its isoforms in disease is indicated. Finally, ABCA7's potential functions in lipid metabolism, phagocytosis, amyloid deposition, and the interplay between these three, is described. To conclude, in this review, we provide a comprehensive overview and discussion about the current knowledge on ABCA7 in AD, and what research questions remain.Highlights Alzheimer's risk‐increasing variants in ABCA7 can be found in up to 7% of AD patients. We review the recently characterized protein structure of ABCA7. We present latest insights in genetics, expression patterns, and functions of ABCA7.

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Section: Common Variantsmentioning

confidence: 84%

The ABC's of Alzheimer risk gene ABCA7

Duchateau,

Wawrzyniak,

Sleegers

2024

Alzheimer's & Dementia

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“…ATP-binding cassette, sub-family A, member 7 (ABCA7), has also been reported to regulate APOE assembly into high-density lipoproteins, as well as controlling glial cell states, leading to a potential protective role in AD [60]. In a Chinese cohort, SNPs in ABCA7 have shown a strong association with AD.…”

Section: Candidate Genes Involved In the Regulation Of Ad Pathwaysmentioning

confidence: 99%

Can Genetic Markers Predict the Sporadic Form of Alzheimer’s Disease? An Updated Review on Genetic Peripheral Markers

Theron,

Hopkins,

Sutherland

et al. 2023

IJMS

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Alzheimer’s disease (AD) is the most common form of dementia that affects millions of individuals worldwide. Although the research over the last decades has provided new insight into AD pathophysiology, there is currently no cure for the disease. AD is often only diagnosed once the symptoms have become prominent, particularly in the late-onset (sporadic) form of AD. Consequently, it is essential to further new avenues for early diagnosis. With recent advances in genomic analysis and a lower cost of use, the exploration of genetic markers alongside RNA molecules can offer a key avenue for early diagnosis. We have here provided a brief overview of potential genetic markers differentially expressed in peripheral tissues in AD cases compared to controls, as well as considering the changes to the dynamics of RNA molecules. By integrating both genotype and RNA changes reported in AD, biomarker profiling can be key for developing reliable AD diagnostic tools.

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