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29-02-2024 | Short Communication

Double mutation in genes associated to FH and diabetes

Authors: Susanna Longo, Francesca Cassandra, Iris Cardolini, Martina Montagna, Alessandro Nucera, Massimo Federici

Published in: Acta Diabetologica | Issue 5/2024

Excerpt

Familial hypercholesterolemia (FH) is an autosomal codominant hereditary disease with complete penetrance. The prevalence of heterozygous FH (HeFH) ranges 1:250–500 people in most countries; while, the prevalence of homozygous FH (HoFH) is estimated around 1:200.000–300.000 but is often underdiagnosed [1]. …

Kamar A, Khalil A, Nemer G (2021) The digenic causality in familial hypercholesterolemia: revising the genotype-phenotype correlations of the disease. Front Genet 11:572045. https://doi.org/10.3389/fgene.2020.572045CrossRefPubMedPubMedCentral

Averna M, Cefalù AB, Casula M et al (2017) Familial hypercholesterolemia: the Italian atherosclerosis society network (LIPIGEN). Atheroscler Suppl 29:11–16. https://doi.org/10.1016/j.atherosclerosissup.2017.07.001CrossRefPubMed

Zhu L, Wu G, Yang X et al (2019) Low density lipoprotein mimics insulin action on autophagy and glucose uptake in endothelial cells. Sci Rep 9(1):3020. https://doi.org/10.1038/s41598-019-39559-7CrossRefPubMedPubMedCentral

Chandra NC (2021) A comprehensive account of insulin and LDL receptor activity over the years: A highlight on their signaling and functional role. J Biochem Mol Toxicol 35(9):e22840. https://doi.org/10.1002/jbt.22840CrossRefPubMed

Ai D, Chen C, Han S et al (2012) Regulation of hepatic LDL receptors by mTORC1 and PCSK9 in mice. J Clin Invest 122(4):1262–1270. https://doi.org/10.1172/JCI61919CrossRefPubMedPubMedCentral

Title: Double mutation in genes associated to FH and diabetes
Authors: Susanna Longo
Francesca Cassandra
Iris Cardolini
Martina Montagna
Alessandro Nucera
Massimo Federici
Publication date: 29-02-2024
Publisher: Springer Milan
Published in: Acta Diabetologica / Issue 5/2024
Print ISSN: 0940-5429
Electronic ISSN: 1432-5233
DOI: https://doi.org/10.1007/s00592-024-02235-y

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