Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.5.4.4 (adenosine deaminase)
 5,136 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Studies have been carried out on polymorphism of adenosine deaminase in 36 Southern African populations comprising more than 3000 individuals. The common variant allele ADA2 has been found to attain polymorphic frequencies only in those populations descended from non-indigenous (i.e. non-Negro and non-Khoisan) groups. Its presence in certain other populations at low frequencies could be ascribed to small-scale Caucasoid admixture. A deficiency of the enzyme is found in certain members of the !Kung division of the San ('Bushman'). The low levels of enzyme activity are not associated with severe combined immunodeficiency and the gene which determines them appears to be polymorphic in the !Kung and possibly in some other San populations as well as possibly in Negro populations which have received substantial contributions of San genes.
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PMID:Red cell adenosine deaminase (ADA) polymorphism in Southern Africa, with special reference to ADA deficiency among the !Kung. 47 31

The Njinga, a matrilineal kiMbundu-speaking Negro people of northern Angola, inhabited the coast near Luanda during the sixteenth century, and were driven inland by Portuguese expansion subsequently. There is no evidence from the present sterogenetic study that they have received any appreciable contribution of Caucasoid genes. Nor is there any evidence of San ('Bushman') admixture apart from a moderate frequency of Gm; their genetic profile and their anthroposcopic traits disclose a greater similarity to West African than to Southern African Negroes. The present study confirms previous findings on the ABO, MNSs, Kell, Duffy, erythrocyte acid phosphatase, adenosine deaminase and adenylate kinase systems, and contributes the first account of the peptidase A, B, C and D, first and second locus phosphoglucomutase, glucose-6-phosphate dehydrogenase, esterase D, haptoglobin, transferrin, Gm and Inv systems in the Njinga.
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PMID:The Njinga of Angola: a serogenetic study. 53 37

Autoimmune rheumatologic disease has a wide range of clinical expression that occasionally can be disabling. Patients with visceral organ involvement are exposed to significant morbidity and mortality if effective therapy is not forthcoming. The mainstay of therapy has been immunosuppression. However, some patients fail to respond to conventional doses of corticosteroids, methotrexate, or cyclophosphamide, and new approaches are needed for these patients. One new approach involves the use of intensified immunosuppression by combining cyclophosphamide with purine nucleoside analogs, including the adenosine deaminase inhibitor pentostatin (Nipent; SuperGen, San Ramon, CA).
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PMID:Pentostatin (Nipent) and high-dose cyclophosphamide for the treatment of refractory autoimmune disorders. 1087 56

San Raffaele Telethon Institute for Gene Therapy is developing an adenosine deaminase-transduced hematopoietic stem cell therapy for the potential intravenous treatment of adenosine deaminase deficiency in severe combined immunocompromised individuals.
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PMID:Drug evaluation: ADA-transduced hematopoietic stem cell therapy for ADA-SCID. 1675 13

GSK2696273 (autologous CD34+ cells transduced with retroviral vector that encodes for the human adenosine deaminase [ADA] enzyme) is a gamma-retroviral ex vivo gene therapy of bone marrow-derived CD34+ cells for the treatment of adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID). ADA-SCID is a severe monogenic disease characterized by immunologic and nonimmunologic symptoms. Bone-marrow transplant from a matched related donor is the treatment of choice, but it is available for only a small proportion of patients. Ex vivo gene therapy of patient bone-marrow CD34+ cells is an alternative treatment. In order to prepare for a marketing authorization application in the European Union, preclinical safety studies in mice were requested by the European Medicines Agency (EMA). A pilot study and a main biodistribution study were performed according to Good Laboratory Practice (GLP) at the San Raffaele Telethon Institute for Gene Therapy test facility. In the main study, human umbilical cord blood (UCB)-derived CD34+ cells were transduced with gamma-retroviral vector used in the production of GSK2696273. Groups of 10 male and 10 female NOD-SCID gamma (NSG) mice were injected intravenously with a single dose of transduced- or mock-transduced UCB CD34+ cells, and they were observed for 4 months. Engraftment and multilineage differentiation of blood cells was observed in the majority of animals in both groups. There was no significant difference in the level of chimerism between the two groups. In the gene therapy group, vector was detectable in lymphohemopoietic and nonlymphohemopoietic tissues, consistent with the presence of gene-modified human hematopoietic donor cells. Given the absence of relevant safety concerns in the data, the nonclinical studies and the clinical experience with GSK2696273 supported a successful application for market authorization in the European Union for the treatment of ADA-SCID patients, for whom no suitable human leukocyte antigen-matched related donor is available.
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PMID:Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice. 2841 Apr 47