Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

Article Abstract:

Deficiency of glycosylphosphatidylinositol (GPI) is recognized as paroxysmal nocturnal hemoglobinuria, an acquired clonal disorder associated with somatic mutations of the X-linked PIGA gene in hematopoietic cells. This mutation reduces transcription of PIGM and blocks mannosylation of GPI, leading to partial but severe deficiency of GPI, and studies indicate that biosynthesis of GPI is essential to maintain homeostasis of blood coagulation and neurological functions.

Genetic aspects, Blood clotting, Blood coagulation, Shortness of breath, Dyspnea, Homeostasis

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Angiotension-converting enzyme is a GPI-anchored protein releasing factor crucial for fertilization

Article Abstract:

The new activity of angiotension-converting enzyme (ACE) that is a glycosylphosphatidylinositol (GPI)-anchored protein releasing activity (GPlase activity) is described. GPlase activity is weakly inhibited by the tightly binding ACE inhibitor and not inactivated by substitutions of core amino acid residues for the peptidase activity, suggesting that the active site elements for GPlase differ from those for peptidase activity.

United States, Proteases, Angiotensin converting enzyme, Fertilization (Biology)

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Targeted therapy for inherited GPI deficiency

Article Abstract:

A study to show that the disrupted binding of the transcription factors Sp1 to the mutated promoter region of the mannosyl transferase, encoding gene PIGM causes inherited glycosylphosphatidylinositol (GPI) deficiency characterized by splanchnic vein thrombosis and epilepsy is conducted. The results show that the drug caused complete cessation of intractable seizure in a child with inherited GPI deficiency.

Care and treatment, Genetic transcription, Transcription (Genetics), Genetic disorders, Phosphatidylinositol, Phosphatidylinositols, Clinical report

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