Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca2+]i distribution in human iPSC-derived cardiomyocytes

Naumenko, Nikolay; Koivumäki, Jussi T.; Lunko, Olesia; Tuomainen, Tomi; Leigh, Robert; Rabiee, Mina; Laurila, Jalmari; Oksanen, Minna; Lehtonen, Sarka; Koistinaho, Jari; Tavi, Pasi

doi:10.1016/j.yjmcc.2024.06.003

Journal of Molecular and Cellular Cardiology

2024

DOI: 10.1016/j.yjmcc.2024.06.003

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Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca2+]i distribution in human iPSC-derived cardiomyocytes

Nikolay Naumenko,

Jussi T. Koivumäki,

Olesia Lunko

et al.

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2024

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Is the Relationship Between Cardiovascular Disease and Alzheimer’s Disease Genetic? A Scoping Review

Moore,

Ritchie

2024

Genes

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Background/Objectives: Cardiovascular disease (CVD) and Alzheimer’s disease (AD) are two diseases highly prevalent in the aging population and often co-occur. The exact relationship between the two diseases is uncertain, though epidemiological studies have demonstrated that CVDs appear to increase the risk of AD and vice versa. This scoping review aims to examine the current identified overlapping genetics between CVDs and AD at the individual gene level and at the shared pathway level. Methods: Following PRISMA-ScR guidelines for a scoping review, we searched the PubMed and Scopus databases from 1990 to October 2024 for articles that involved (1) CVDs, (2) AD, and (3) used statistical methods to parse genetic relationships. Results: Our search yielded 2918 articles, of which 274 articles passed screening and were organized into two main sections: (1) evidence of shared genetic risk; and (2) shared mechanisms. The genes APOE, PSEN1, and PSEN2 reportedly have wide effects across the AD and CVD spectrum, affecting both cardiac and brain tissues. Mechanistically, changes in three main pathways (lipid metabolism, blood pressure regulation, and the breakdown of the blood–brain barrier (BBB)) contribute to subclinical and etiological changes that promote both AD and CVD progression. However, genetic studies continue to be limited by the availability of longitudinal data and lack of cohorts that are representative of diverse populations. Conclusions: Highly penetrant familial genes simultaneously increase the risk of CVDs and AD. However, in most cases, sets of dysregulated genes within larger-scale mechanisms, like changes in lipid metabolism, blood pressure regulation, and BBB breakdown, increase the risk of both AD and CVDs and contribute to disease progression.

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Is the Relationship Between Cardiovascular Disease and Alzheimer’s Disease Genetic? A Scoping Review

Moore,

Ritchie

2024

Genes

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show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

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Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca2+]i distribution in human iPSC-derived cardiomyocytes

Cited by 1 publication

References 46 publications

Is the Relationship Between Cardiovascular Disease and Alzheimer’s Disease Genetic? A Scoping Review

Is the Relationship Between Cardiovascular Disease and Alzheimer’s Disease Genetic? A Scoping Review

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