Alpha-chain disease

Seligmann, M., Danon, F., Hurez, D., Mihaesco, E., and Preud homme, J. L., Alpha-chain disease A new immunoglobulin abnormality. Science 162,1396-1397 (1968). 

Iijima, H., Takahashi, I., Kishi, D., Kim, J.K., Kawano, S., Hori, M. and Kiyono, H. (1999) Alteration of interleukin 4 production results in the inhibition of T helper type 2 cell-dominated inflammatory bowel disease in T cell receptor alpha chain-deficient mice. Journal of Experimental Medicine 190, 607-615. 

Sakaguchi, S. et al., Immunologic self-tolerance maintained by activated T cells expressing IL-2 receptor alpha-chains (CD25). Breakdown of a single mechanism of self-tolerance causes various autoimmune diseases, J. Immunol. 155, 1151-1164, 1995. 

Przepiorka D, Keman NA, Ipppoliti C, Papandopoulas EB, et al. 2000. Dachzumab, a humanized anti-interleukin-2 receptor alpha chain antibody, for the treatment of acute graft-versus-host disease Blood. 2000 83-89. 

The disease is caused by a mutation of a gene that controls hemoglobin production. A hemoglobin molecule consists of two types of amino acid chains alpha chains and beta chains. At the molecular level, the sickle-cell anemia mutation involves the replacement of one amino acid in the beta chains by another... 

R7. Ramot, B., Sheba, C., Fisher, S., Ager, J. A. M., and Lehmann, H., Haemoglobin H disease with persistent haemoglobin Bart s in an Oriental Jewess and her daughter. A dual alpha chain deficiency of human haemoglobin. Brit. Med. J. U, 1228-1230 (1959). 

For some patients with this disease the molecular abnormality (which is caused by a mutated gene) is the replacement of the histidine residue in the fifty-eighth position of the alpha chain or the sixty-third position of the beta chain by a tyrosine residue, shown in the adjacent drawing. The tyrosine side chain. CH.CeHiOH, does not have the property of adding a proton and assuming the positive electric charge that would stabilize the ferrous state of the iron atom. 

Myerowitz R., Costigan F.C., The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase, The Journal of biological chemistry 263 (1988) 18587-18589. 

Sakaguchi, S., Sakaguchi. N..Asano.M., Itoh.M.. and Toda. M. (1995) Immunologic Self-Tolerance Maintained by Activated T Cells Expressing IL-2 Receptor Alpha-Chains (CD25). Breakdown of a Single Mechanism of Self-Tolerance Causes Various Autoimmune Diseases,/. Immunol. 155,1151 1164. 

Myerowitz, R., and Hogikyan, N. D., 1987, A deletion involving Alu sequences in the beta-hexosaminidase alpha chain gene of French Canadians with Tay-Sachs disease, J. Biol. Chem. 262 15396-15399. 

Tertiary structures are formed by the twisting of alpha-helices into specific shapes. They are produced and held in place by the interactions of amino side chains on the amino acid residues constituting the protein macromolecules. Tertiary protein structure is very important in the processes by which enzymes identify specific proteins and other molecules upon which they act. It is also involved with the action of antibodies in blood, which recognize foreign proteins by their shape and react to them. This is what happens in the phenomenon of disease immunity, where antibodies in blood recognize specific proteins from viruses or bacteria and reject them. 

Mizon C, Mairie C, Balduyck M, Hachulla E, Mizon J. The chondroitin sulfate chain of bikunin-containing proteins in the inter-alpha-inhibitor family increases in size in inflammatory diseases. Eur J Biochem 2001 268 2717-2724. 

Alpha-linolenic acid (18 3n-3) is an 18-carbon fatty acid with three double bonds at carbons 9, 12, and 15. It is an essential n-3 fatty acid that is a required nutrient for human beings and can be obtained through diets including both plant and animal sources. Alpha-linolenic acid can be converted by elongases and desaturases to other beneficial n-3 fatty acids, such as eicosapentaenoic acid (EPA) and docosa-hexaenoic acid (DHA), which are implicated in normal brain development, normal vision, and a decreased risk of heart disease. Novel dietary sources of n-3 fatty acids are desired for those who do not consume adequate amounts of fish or fish-based food products rich in long-chain n-3 fatty acids. This section summarized fruit, spice, and herb seed oils rich in a-linolenic acid (18 3n-3). These include black raspberry, red raspberry, boysenberry, marionberry, blueberry, cranberry, sea buckthorn, basil, and hemp seed oils. 

Branched-chain ketoaciduria (commonly known as Maple Syrup Urine Disease MSUD) is another ailment that may be caused by thiamine deficiency. In MSUD, the oxidative decarboxylation of alpha-keto acids derived from, i.e. valine, isoleucine, and leucine, is blocked due to an inadequate supply of the coenzyme thiamine pyrophosphate (TPP). Clinical symptoms of MSUD include mental and physical retardation. Describe briefly the structure of Riboflavin (Vitamin B-2) and its biochemical role. 

Wynn RM, Davie JR, Chuang JL, Cote CD, Chuang DT. Impaired assembly of El decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type lA maple syrup urine disease. J Biol Chem 1998 273 13110-8. 

Hochhaus A, Lin F, Reiter A, Skladny H, Mason PJ, van Rhee F, et al. Quantification of residual disease in chronic myelogenous leukemia patients on interferon-alpha therapy by competitive polymerase chain reaction. Blood 1996 87 1549-55. 

Eldjarn L, Stokke O, Try K. 1966. Alpha-oxidation of branched chain fatty acids in man and its failure in patients with Refsum s disease showing phytanic acid accumulation. Scand J Clin Lab Invest 18 694-695. 

---