A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation.

Journal: Journal of clinical lipidology
PMID: 29396262

Abstract

Apolipoprotein A-I deficiency is a rare metabolic disease characterized by an impaired reverse cholesterol transport system resulting in excessive cholesterol accumulation. Here, we discuss a case of apolipoprotein A-I deficiency caused by a carboxyl-terminal truncation mutation p.His186ProfsX46 in APOA1, which might result in increased catabolism of the mutant protein.

Authors

  • Sho Tanaka
    Division of Nephrology, Hypertension and Endocrinology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan.
  • Akira Haketa
    Division of Nephrology, Hypertension and Endocrinology, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan. Electronic address: haketa07@gmail.com.
  • Tohru Sakimoto
    Division of Ophthalmology, Department of Visual Sciences, Nihon University School of Medicine, Tokyo, Japan.
  • Masanori Abe
    The Committee of Renal Data Registry, Japanese Society for Dialysis Therapy, Tokyo, Japan.

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