Biomaterial Database

Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. 1987

M Cicardi, and T Igarashi, and F S Rosen, and A E Davis

Hereditary angioneurotic edema (HANE) results from deficiency of complement 1 inhibitor (C1 INH). In type I HANE, C1 INH is present in serum at levels 5-30% of normals. Using cultured monocytes and biosynthetic labeling of proteins, C1 INH was detected in supernatants of cells from HANE patients at levels 20% of those detected in normals. The intracellular reduction of C1 INH in patients' monocytes approached 50%. The study of C1 INH messenger RNA (mRNA) by Northern blot analysis indicated that in HANE patients' monocytes a message of normal size is present at about half the concentration of that from normal cells. One of the patients analyzed showed the presence of a genetically inherited abnormal mRNA (1.9 kb) in addition to the normal mRNA (2.1 kb). Southern blot analysis of DNA from peripheral blood leukocytes did not show any difference in quantity or in sizes of endonuclease restriction fragments between patients and normals. The defect(s), therefore, in type I HANE is pretranslational, but is not due to a deletion or to a major chromosomal rearrangement.

UI	MeSH Term	Description	Entries
D009000	Monocytes	Large, phagocytic mononuclear leukocytes produced in the vertebrate BONE MARROW and released into the BLOOD; contain a large, oval or somewhat indented nucleus surrounded by voluminous cytoplasm and numerous organelles.	Monocyte
D009693	Nucleic Acid Hybridization	Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)	Genomic Hybridization,Acid Hybridization, Nucleic,Acid Hybridizations, Nucleic,Genomic Hybridizations,Hybridization, Genomic,Hybridization, Nucleic Acid,Hybridizations, Genomic,Hybridizations, Nucleic Acid,Nucleic Acid Hybridizations
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D003174	Complement C1 Inactivator Proteins	Serum proteins that inhibit, antagonize, or inactivate COMPLEMENT C1 or its subunits.	Complement 1 Esterase Inhibitors,Complement C1 Inactivating Proteins,Complement C1 Inhibiting Proteins,Complement C1 Inhibitor Proteins,Complement C1r Protease Inhibitor Proteins,Complement C1s Esterase Inhibitor Proteins,Complement Component 1 Inactivator Proteins
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000799	Angioedema	Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.	Quincke's Edema,Urticaria, Giant,Angioneurotic Edema,Angioedemas,Angioneurotic Edemas,Edema, Angioneurotic,Edema, Quincke's,Edemas, Angioneurotic,Giant Urticaria,Giant Urticarias,Quincke Edema,Quinckes Edema,Urticarias, Giant
D012333	RNA, Messenger	RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.	Messenger RNA,Messenger RNA, Polyadenylated,Poly(A) Tail,Poly(A)+ RNA,Poly(A)+ mRNA,RNA, Messenger, Polyadenylated,RNA, Polyadenylated,mRNA,mRNA, Non-Polyadenylated,mRNA, Polyadenylated,Non-Polyadenylated mRNA,Poly(A) RNA,Polyadenylated mRNA,Non Polyadenylated mRNA,Polyadenylated Messenger RNA,Polyadenylated RNA,RNA, Polyadenylated Messenger,mRNA, Non Polyadenylated