Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
Article Abstract:
The genetic basis for paroxysmal nocturnal hemoglobinuria (PNH), an acquired hematopoietic diseases characterized by a deficiency in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor, was investigated. The study involved the complementation of GPI-deficient mutant cell lines. The results showed that a deficiency of the gene for phosphatidylinositol glycan class A (PIG-A) is responsible for PNH. PIG-A is involved in the synthesis of N-acetylglucosaminyl phosphatidylinositol, which is the first intermediate in the pathway for GPI anchor biosynthesis.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1993
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The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I
Article Abstract:
A novel method for isolating epithelial cells with renal cysts was utilized to determine the role of cyst formation in the pathogenesis of autosomal dominant polycystic kidney (ADPKD) disease. The focal nature of cyst formation in ADPK is mediated by mutations in the PKD1 allele of the somatic tissues. The genetic inheritance of the disease is characterized by a molecular recessive mechanism that is responsible for the phenotypic variability of the inherited disorder among family members.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
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Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?
Article Abstract:
Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic anemia in which hemolysis is intravascular. PNH, which is an acquired disorder, can arise through a somic mutation in a multipotent hematopoietic stem cell. It is a rare disease that strikes one to 10 persons per million people. It shares several features of clonal disorders with leukemia. PNH cell proliferation is significantly dictated by the environment.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
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