A couple who were first cousins had three children: an older son with Bloom syndrome (BLS) and homozygous lecithin-cholesterol acyltransferase (LCAT) deficiency; the second child (a son) and the parents are LCAT deficiency and the youngest child (a daughter), is homozygous for LCAT deficiency. The use of genetic markers gave no evidence of linkage of BLS and LCAT loci.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320140312 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
LCAT deficiency promotes hepatocellular carcinoma progression and lenvatinib resistance by promoting triglyceride catabolism and fatty acid oxidation.
Cancer Lett
January 2025
Department of Liver Surgery and Transplantation, Liver Cancer Institute, Zhongshan Hospital, Fudan University, Key Laboratory of Carcinogenesis and Cancer Invasion, Ministry of Education, Shanghai, 200032, PR China. Electronic address:
Lecithin cholesterol acyltransferase (LCAT), a crucial enzyme in lipid metabolism, plays important yet poorly understood roles in tumours, especially in hepatocellular carcinoma (HCC). In this study, our investigation revealed that LCAT is a key downregulated metabolic gene and an independent risk factor for poor prognosis in patients with HCC. Functional experiments showed that LCAT inhibited HCC cell proliferation, migration and invasion.
View Article and Find Full Text PDFA Rare Case of Autoimmune-Mediated Lecithin:Cholesterol Acyltransferase Insufficiency Manifesting as the Acute Onset of Extremely Hypo-High-Density Lipoprotein-Cholesterolemia and Spontaneous Improvement: A Case Report with a Review of the Literature.
J Atheroscler Thromb
December 2024
Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology, Second Department of Internal Medicine, Graduate School of Medicine, University of the Ryukyus.
A 59-year-old Japanese woman was referred for an extremely low level of circulating high-density lipoprotein cholesterol (HDL-C). The serum HDL-C level had long been within the normal range but suddenly decreased asymptomatically to 7 mg/dL. She had no typical symptoms associated with familial lecithin, cholesterol acyltransferase deficiency (FLD), including proteinuria, anemia, and corneal opacity.
View Article and Find Full Text PDFNovel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.
J Clin Lipidol
October 2024
Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Article Synopsis
- Low HDL-cholesterol and corneal opacity are linked to diseases like fish-eye disease and familial LCAT deficiency, with diagnosis typically requiring both clinical and biochemical tests, particularly LCAT activity, which isn't accessible in all clinics.
- A case study revealed a patient with compound heterozygous FED whose CE/TC ratio was normal, contrasting with the expectation of low levels due to LCAT gene variants.
- The patient showed 20% LCAT α-activity, which is enough to normalize their CE/TC ratio but insufficient to prevent corneal opacity, highlighting a distinction in LCAT activity's effects on disease symptoms.
Gliflozins, sucrose and flavonoids are allosteric activators of lecithin-cholesterol acyltransferase.
Sci Rep
October 2024
Division of Pharmaceutical Biosciences, Faculty of Pharmacy, University of Helsinki, Helsinki, Finland.
Article Synopsis
- LCAT is an essential enzyme for maintaining cholesterol balance and plays a role in preventing atherosclerosis; dysfunction can lead to severe disorders without current treatments.
- Research explores using small molecule positive allosteric modulators (PAMs) to improve LCAT function, although proving their effectiveness against atherosclerosis is complex.
- The study found that certain compounds, like SGLT2 inhibitors, activate LCAT, suggesting new insights into diabetes medications and highlighting the usefulness of molecular simulations in drug development.
A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis.
Cornea
November 2024
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Purpose: To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis.
Methods: Case report.
Results: A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both corneas for approximately 20 years.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!