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Updated: Jul 9, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Beyond cardiovascular risk: Implications of Familial hypercholesterolemia on cognition and brain function
Jade de Oliveira1, Eduardo Luiz Gasnhar Moreira2, Andreza Fabro de Bem3
1Laboratory of investigation on metabolic disorders and neurodegenerative diseases, Department of Biochemistry, Federal University of Rio Grande do Sul, Porto Alegre, RS 90035-003, Brazil.
Abstract:
Familial hypercholesterolemia (FH) is a metabolic condition caused mainly by a mutation in the low-density lipoprotein (LDL) receptor gene (LDLR), which is highly prevalent in the population. Besides being an important causative factor of cardiovascular diseases, FH has been considered an early risk factor for Alzheimer's disease. Cognitive and emotional behavioral impairments in LDL receptor knockout (LDLr-/-) mice are associated with neuroinflammation, blood-brain barrier dysfunction, impaired neurogenesis, brain oxidative stress, and mitochondrial dysfunction. Notably, today, LDLr-/- mice, a widely used animal model for studying cardiovascular diseases and atherosclerosis, are also considered an interesting tool for studying dementia. Here, we reviewed the main findings in LDLr-/- mice regarding the relationship between FH and brain dysfunctions and dementia development.
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