Low serum alpha-1 antitrypsin (AAT) in family members of individuals with autism correlates with PiMZ genotype

Biomarker Insights

Volumn 2009, Issue 4, 2009, Pages 45-56

  Russo, Anthony J ^a   Neville, Lauren ^a   Wroge, Christine ^a  

^a MOUNT ST MARY S UNIVERSITY   (United States)

Author keywords

Alpha 1 antitrypsin; Autism; Gastrointestinal disease

Indexed keywords

ALPHA 1 ANTITRYPSIN; IMMUNOGLOBULIN G; MONOCLONAL ANTIBODY;

ADULT; ALLELE; ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GASTROINTESTINAL DISEASE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HYPERBILIRUBINEMIA; MAJOR CLINICAL STUDY; MALE; ONSET AGE; POLYMERASE CHAIN REACTION; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; RESPIRATORY TRACT DISEASE; WESTERN BLOTTING;

EID: 65549116958     PISSN: None     EISSN: 11772719     Source Type: Journal    
DOI: 10.4137/bmi.s1115     Document Type: Article

References (43)

1. Blank CA, Brantley M. Clinical features and molecular characteristics of 1-antitrypsin deficiency. Ann Allergy. 1994;72:105-120.
2. Massi G, Chiarelli C. Alpha1-antitrypsin: molecular structure and the Pi system. Acta Paediatr Suppl. 1994;393:1-4.
3. Carrell RW. Alpha1-antitrypsin: molecular pathology, leukocytes, and tissue damage. J Clin Invest. 1986;78:1427-1431.
4. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha1-antitrypsin deficiency. Am J Med. 1998;84(Suppl 6A):13-31.
5. Kurachi K, Chandra T, Degen SJ, et al. Cloning and sequence of cDNA coding for alpha 1-antitrypsin. Proc Natl Acad Sci U S A. 1981;78:6826-30.
6. Silverman GA, Bird PI, Carrell RW, et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J Biol Chem. 2001;276:33293-6.
7. Billingsley GD, Walter MA, Hammond GL, et al. Physical mapping of four serpin genes: alpha1-antitrypsin, alpha1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome I4q32.1. Am J Hum Genet. 1993; 52:343-53.
8. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull WHO. 1997;75:397-415.
9. Fagerhol MK, Laurell CB. The Pi system-inherited variants of serum alpha1-antitrypsin. Prog Med Genet. 1970;7:6-111.
10. Lomas DA, Evans DL, Finch JT, et al. The mechanism of Z alpha 1-antitrypsin accumulation in the liver. Nature 1992;357:605-7.
11. Lee JH, Brantly M. Molecular mechanisms of alpha1-antitrypsin null alleles. Respir Med. 2000;94(Suppl C):S7-11.
12. Hutchison DCS. Epidemiology of alpha1-protease inhibitor deficiency. Eur Respir J. 1990;3(Suppl 9):29s-34S.
13. Travis J, Salvesen GS. Human plasma proteinase inhibitors. Annu Rev Biochem. 1983;52:655-709.
14. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency. N Engl J Med. 2002;346:45-53.
15. Steiner SJ, Gupta SK, Croffie JM, Fitzgerald JF. Serum levels of alpha1-antitrypsin predict phenotypic expression of the alpha1-antitrypsin gene. Dig Dis Sci. 2003;48:1793-6.
16. American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
17. Brantly M. Alpha1-antitrypsin genotypes and phenotypes. In: Crystal RG, (ed). Alpha1-antitrypsin deficiency. New York: Marcel Dekker, 1996.
18. Perlmutter DH. Clinical manifestations of alpha1-antitrypsin deficiency. Gastroenterol Clin North Am. 1995;24:27-43.
19. Janoff A, George-Nascimento C, Rosenberg S. A genetically engineered, mutant human alpha-1-proteinase inhibitor is more resistant than the normal inhibitor to oxidative inactivation by chemicals, enzymes, cells, and cigarette smoke. Am Rev Respir Dis. 1996;133(3):353-6.
20. Walker-Smith J, Andrews J. Alpha-1-antitrypsin, autism, and coeliac disease. The Lancet II. 1972;883-884.
21. Engstrom G, Hedblad B, Stavenow L, et al. Incidence of Obesity-Associated Cardiovascular Disease Is Related to Inflammation-Sensitive Plasma Proteins. A Population-Based Cohort Study. Arterioscler Thromb Vasc Biol. 2004;Jun 3.
22. Horvath K, Papadimitriou JC, Rabsztyn A, et al. Gastrointestinal abnormalities in children with autistic disorder. J Pediatr. 1999;135: 559-563.
23. Ghaem M, Armstrong KL, Trocki O, et al. The sleep patterns of infants and young children with gastro-oesophageal reflux. J Paediatr Child Health 1998;34:160-163.
24. Alberti A, Pirrone P, Elia M, et al. Sulfation deficit in "low-functioning" autistic children: a pilot study. Biol Psychiatry. 1999;46:420-424.
25. O'Reilly B, Waring R: Enzyme and sulfur oxidation deficiencies in autistic children with known food/chemical intolerances. Journal of Orthomolecular Medicine. 1993;4:198-200.
26. Wakefield AJ, Anthony A, Murch SH, et al. Enterocolitis in children with developmental disorders. Am J Gastroenterol. 2000;95:2285-2295.
27. Harlow E, Lane D. Antibodies: A Laboratory Manual. Cold Spring Harbor Laboratory Press, (New York); 1988.
28. Ferencik M. Handbook of Immunochemistry, Chapman and Hall, (New York) 1993.
29. Lucotte G, Sesbou R. Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay, Molecular and Cellular Probes. 1999;13:389-391.
30. Rosen HR. Liver disease associated with alpha 1-antitrypsin deficiency. In: Rosen HR, Martin P, eds. Metabolic Liver Disease. Clinics in Liver Disease. Vol 2. Philadelphia, PA: WB Saunders; 1998.
31. Sharp HL, Bridges RA, Krivit W, Freier EF. (1969). Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med. 1969;73:934-939.
32. Berg NO, Eriksson S. Liver disease in adults with alpha-1-antitrypsin deficiency. N Engl J Med. 1972;287:1264-1267.
33. Cederlund and Gillberg One hundred males with Asperger syndrome: a clinical study of background and associated factors. Developmental Medicine and Child Neurology. 2004;46:652-60.
34. Zimmerman HM, Yannet H. Kernicterus: jaundice of the nuclear masses of the brain. American Journal of Diseases of Children. 1933;45:740-759.
35. Lucey JF, Hibbard E, Behrman RE, Esquival FO, Windle WF. Kernicterus in asphyxiated newborn monkeys. Experimental Neurology. 1964;9:43-58.
36. Asperger H. Die Psychopathologie des coeliakakranken kindes. Ann Paediatr. 1961;197:146-51.
37. D'Eufemia P, Celli M, Finocchiaro R, et al. Abnormal intestinal permeability in children with autism. Acta Paediatrica. 1996;85:1076-79.
38. Furlano RI, Anthony A, Day R et al. Lymphocytic colitis, with CD8 and T cell infiltration and epithelial damage, in children with autism. J Pediatr. 2001;138:366-372.
39. Erickson CA, Stigler KA. et al. Gastrointestinal factors in autistic disorder: a critical review. J Autism Dev Disord. 2005;35(6):713-27.
40. Elzouki AN, Eriksson S, Lofberg R, Nassberger L, Wieslander J, Lindgren S. The prevalence and clinical significance of alpha1-antitrypsin deficiency (PiZ) and ANCA specificities (proteinase 3, BPI) in patients with ulcerative colitis. Inflamm Bowel Dis. 1999;5(4):246-52.
41. Woolhouse Leukocyte adhesion and recruitment, and alpha-1-antitrypsin deficiency: a report from ATS 2001, May 18-23, San Francisco. Respir Res. 2001;2(5): E004.
42. Malerba M, et al. Neutrophilic inflammation and IL-8 levels in induced sputum of alpha-1-antitrypsin PiMZ subjects. Thorax. 2006;61(2):129-33.
43. Eriksson S, Moestrup T, Hágerstrand I. Liver, lung and malignant disease in heterozygous (Pi MZ) alpha1-antitrypsin deficiency. Acta Med Scand. 1975;198(4):243-7.