Alzheimer’s Disease Genetics: From the Bench to the Clinic

Karch, Celeste M.; Cruchaga, Carlos; Goate, Alison M.

doi:10.1016/j.neuron.2014.05.041

Cited by 473Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

Alzheimer’s Disease Genetics: From the Bench to the Clinic

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Karch, Celeste M., Cruchaga, Carlos, Goate, Alison M.·2014·Neuron

DOI 10.1016/j.neuron.2014.05.041PMC PMC4120741

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Abstract

Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component. Several genes have been associated with AD risk for nearly 20 years. However, it was not until the recent technological advances that allow for the analysis of millions of polymorphisms in thousands of subjects that we have been able to advance our understanding of the genetic complexity of AD susceptibility. Genome-wide association studies and whole-exome and whole-genome sequencing have revealed more than 20 loci associated with AD risk. These studies have provided insights into the molecular pathways that are altered in AD pathogenesis, which have, in turn, provided insight into novel therapeutic targets.

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PSEN1 mutations lead to faster soluble-to-fibrillar conversion of Aβ42 promoting amyloid deposition in the brain.
“PSEN1 mutations lead to faster soluble-to-fibrillar conversion of A 𝛃 42 promoting amyloid deposition in the brain (303, 566, 580).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [303]
The “PSEN1 and PSEN2” section says these mutations alter the Aβ42/Aβ40 ratio, and the “APP” section says Aβ42 is more prone to aggregate than Aβ40. The paper does not say PSEN1 mutations speed soluble-to-fibrillar conversion of Aβ42; it discusses accelerated aggregation in connection with APP mutations instead. Page numbers are unavailable in our copy. (LLM, conf=0.86)
Experimental — accuracy not yet measured
To date, 228 PSEN1 mutations have been identified causing ADAD.
“To date, 228 PSEN1 mutations have been identified causing ADAD (49, 303, 304, 440, 566, 580).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [303]
The Linkage Studies section (PSEN1 and PSEN2; page unavailable) discusses disease-causing PSEN1 mutations, supporting the general connection to autosomal dominant Alzheimer’s disease. Neither that section nor the searched passages give a count of 228 PSEN1 mutations, so the specific number is unsupported by our copy. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Rare mutations in amyloid precursor protein (APP), presenilin (PSEN) 1 and 2, ADAM10, and ADAM17 trigger Aβ plaque accumulation and are sufficient to induce the full biochemical and morphological signature of AD.
“Rare mutations in amyloid precursor protein (APP), presenilin (PSEN) 1 and 2 (Karch et al., 2014), ADAM10 (Suh et al., 2013), and ADAM17 (Hartl et al., 2018) trigger Aβ plaque accumulation and are sufficient to induce the full biochemical and morphological signature of AD.”
From The Major Risk Factors for Alzheimer’s Disease: Age, Sex, and Genes Modulate the Microglia Response to Aβ Plaques (2019) · cites this paper as Karch et al., 2014
The Linkage Studies section says pathogenic APP, PSEN1 and PSEN2 mutations cause early-onset AD, and the Alzheimer’s Disease section describes a hypothesis in which Aβ plaque deposition initiates later pathological changes. It does not establish that these mutations are sufficient to produce the full biochemical and morphological signature as a demonstrated fact; the Sequencing Studies section also notes that some rare variants are risk factors rather than fully causative. ADAM10 and ADAM17 have separate citations and are not assessed here (page numbers unavailable). (LLM, conf=0.85)
Experimental — accuracy not yet measured
Additional genetic risk factors for AD hint at a plurality of mechanisms through which AD is developed.
“Besides APOE, additional genetic risk factors for AD, such as those identified by linkage analysis and GWAS in the IGAP study, hint at a plurality of mechanisms through which AD is developed (6, 44, 45).”
From Molecular subtyping of Alzheimer’s disease using RNA sequencing data reveals novel mechanisms and targets (2021) · cites this paper as [45]
Autosomal-dominant AD is caused by mutations in APP and PSEN1 and PSEN2 genes.
“Autosomal-dominant AD (ADAD) is an inherited form of AD caused by mutations in amyloid precursor protein ( APP ) and presenilin-1 and 2 ( PSEN1; PSEN2 ) genes (49, 177, 303, 304, 580).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [303]

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Guerreiro R Hardy J 2013 TREM2 and neurodegenerative disease N Engl J Med 369 1569 1570 24143816
Guerreiro R Wojtas A Bras J Carrasquillo M Rogaeva E Majounie E Cruchaga C Sassi C Kauwe JS Younkin S Hazrati L Collinge J Pocock J Lashley T Williams J Lambert JC Amouyel P Goate A Rademakers R Morgan K Powell J St George-Hyslop P Singleton A Hardy J Alzheimer Genetic Analysis G 2013b TREM2 variants in Alzheimer’s disease N Engl J Med 368 117 127 23150934 PMC3631573
Guerreiro RJ Lohmann E Bras JM Gibbs JR Rohrer JD Gurunlian N Dursun B Bilgic B Hanagasi H Gurvit H Emre M Singleton A Hardy J 2012b Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement Arch Neurol 1 7 PMC4001789 23318515
Jonsson T Stefansson H Steinberg S Jonsdottir I Jonsson PV Snaedal J Bjornsson S Huttenlocher J Levey AI Lah JJ Rujescu D Hampel H Giegling I Andreassen OA Engedal K Ulstein I Djurovic S Ibrahim-Verbaas C Hofman A Ikram MA van Duijn CM Thorsteinsdottir U Kong A Stefansson K 2013b Variant of TREM2 associated with the risk of Alzheimer’s disease N Engl J Med 368 107 116 23150908 PMC3677583
Rajagopalan P Hibar DP Thompson PM 2013 TREM2 and neurodegenerative disease N Engl J Med 369 1565 1567 24131186 PMC4024453

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Authors: Karch, C. M., Cruchaga, C., & Goate, A. M.
Affiliations: Washington University in St. Louis (US)
Corresponding author: Goate, Alison M.
ORCID: Karch, Celeste M.
Cruchaga, Carlos
Goate, Alison M.
Venue: Neuron
Publisher: Elsevier BV
Published: 2014-07
Volume: 83
Issue: 1
Pages: 11-26
ISSN: 0896-6273 (ISSN-L)
DOI: 10.1016/j.neuron.2014.05.041
PMC: PMC4120741
OpenAlex: W2082524462
Cited by: 473
References: 179
Citations by year: 2026: 23 · 2025: 22 · 2024: 23 · 2023: 41 · 2022: 35 · 2021: 51 · 2020: 40 · 2019: 48 · 2018: 40 · 2017: 47 · 2016: 48 · 2015: 44 · 2014: 11
FWCI: 5.87
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 366 d)
Locations: Neuron (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute on Aging (RF1AG044546, K01AG046374, R01AG035083, R01AG044546, AG035083, AG044546)
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: Alzheimer's disease, genetic susceptibility, genetic susceptibility loci, genome-wide association study, exome sequencing, whole genome sequencing, genetic polymorphism, neurodegeneration, therapeutic target, molecular pathways
MeSH terms: Alzheimer Disease, Animals, Humans, Pharmacogenetics, Genetic Variation, Case-Control Studies, Genetic Predisposition to Disease

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Alzheimer’s Disease Genetics: From the Bench to the Clinic

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