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Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
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Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Itziar Lamiquiz-Moneo1, Fernando Civeira2,3, Diego Gómez-Coronado4

  • 1Lipid Unit, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), CIBER Cardiovascular (CIBERCV), 50009 Zaragoza, Spain. itziarlamiquiz@gmail.com.

Journal of Clinical Medicine
|November 6, 2019
PubMed

Insights

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency can cause kidney disease. This study identified new mutations and suggests triglyceride-rich VLDL particles may contribute to renal complications in LCAT deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disorder.
  • Renal complications are a primary cause of morbidity and mortality in FLD patients.
  • The precise mechanisms linking FLD to renal disease require further elucidation.

Purpose of the Study:

  • To analyze the clinical characteristics of FLD patients with renal disease.
  • To investigate potential mechanisms underlying renal complications in FLD.
  • To report novel genetic mutations associated with FLD.

Main Methods:

  • Clinical data collection and assessment of renal disease.
  • Plasma lipid profiling, LCAT activity assays, and lipoprotein analysis (NMR, FPLC).
  • Identification of lipoprotein X (LpX) and DNA sequencing for mutation analysis.

Main Results:

  • Three new FLD cases were identified, including two siblings.
  • Novel homozygous missense mutations (p.(Ile202Thr) and p.(Arg171Glu)) were discovered.
  • Patients with renal disease exhibited increased small very low-density lipoprotein (VLDL) particles and higher VLDL triglycerides.

Conclusions:

  • Renal disease in FLD is not solely dependent on LCAT deficiency.
  • Elevated levels of triglyceride-rich VLDL particles and LpX may play a role in FLD-associated nephropathy.
  • This study highlights new genetic variants and potential pathogenic pathways in FLD.

Keywords:
FPLCNMRVLDLfamilial LCAT deficiencyfish eye diseasephospholipidstriglycerides

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