A novel alpha1-antitrypsin null variant (PiQ0Milano)

World Journal of Hepatology

Volumn 5, Issue 8, 2013, Pages 458-461

  Rametta, Raffaela ^a   Nebbia, Gabriella ^b   Dongiovanni, Paola ^b   Farallo, Marcello ^b   Fargion, Silvia ^a,b   Valenti, Luca ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Alpha1 antitrypsin deficiency; Alpha1 antitrypsin null mutation; Liver disease; Rare variant

Indexed keywords

EID: 84884295715     PISSN: None     EISSN: 19485182     Source Type: Journal    
DOI: 10.4254/wjh.v5.i8.458     Document Type: Article

References (25)

1. Fagerhol MK, Laurell CB. The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera. Clin Chim Acta 1967; 16: 199-203 [PMID: 4166396]
2. Crystal RG. Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest 1990; 85: 1343-1352 [PMID: 2185272]
3. Gadek JE, Fells GA, Zimmerman RL, Rennard SI, Crystal RG. Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema. J Clin Invest 1981; 68: 889-898 [PMID: 6169740]
4. Wewers MD, Casolaro MA, Sellers SE, Swayze SC, McPhaul KM, Wittes JT, Crystal RG. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med 1987; 316: 1055-1062 [PMID: 3494198]
5. Ferrarotti I, Thun GA, Zorzetto M, Ottaviani S, Imboden M, Schindler C, von Eckardstein A, Rohrer L, Rochat T, Russi EW, Probst-Hensch NM, Luisetti M. Serum levels and genotype distribution of a1-antitrypsin in the general population. Thorax 2012; 67: 669-674 [PMID: 22426792 DOI: 10.1136/thoraxjnl-2011-201321]
6. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency--a model for conformational diseases. N Engl J Med 2002; 346: 45-53 [PMID: 11778003]
7. Zaimidou S, van Baal S, Smith TD, Mitropoulos K, Ljujic M, Radojkovic D, Cotton RG, Patrinos GP. A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the Vari-Vis software. Hum Mutat 2009; 30: 308-313 [PMID: 19021233 DOI: 10.1002/humu.20857]
8. Laurell CB, Eriksson S. The electrophoretic a1-globulin pattern of serum in a1-antitrypsin deficiency. COPD 2013; 10 Suppl 1: 3-8 [PMID: 23527532 DOI: 10.1080/00365516309051 324]
9. Hodges JR, Millward-Sadler GH, Barbatis C, Wright R. Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis. N Engl J Med 1981; 304: 557-560 [PMID: 6969850]
10. Graziadei IW, Joseph JJ, Wiesner RH, Therneau TM, Batts KP, Porayko MK. Increased risk of chronic liver failure in adults with heterozygous alpha1-antitrypsin deficiency. Hepatology 1998; 28: 1058-1063 [PMID: 9755243]
11. Fischer HP, Ortiz-Pallardó ME, Ko Y, Esch C, Zhou H. Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ. J Hepatol 2000; 33: 883-892 [PMID: 11131449]
12. Chan CH, Steer CJ, Vergalla J, Jones EA. Alpha1-antitrypsin deficiency with cirrhosis associated with the protease inhibitor phenotype SZ. Am J Med 1978; 65: 978-986 [PMID: 217266]
13. Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, Corda L, Balbi B, Campo I, Pozzi E, Faa G, Coni P, Massi G, Stella G, Luisetti M. Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency. J Med Genet 2005; 42: 282-287 [PMID: 15744045]
14. Faber JP, Weidinger S, Goedde HW, Ole K. The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. Am J Hum Genet 1989; 45: 161-163 [PMID: 2787118]
15. Graham A, Kalsheker NA, Newton CR, Bamforth FJ, Powell SJ, Markham AF. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). Hum Genet 1989; 84: 55-58 [PMID: 2606478]
16. Hildesheim J, Kinsley G, Bissell M, Pierce J, Brantly M. Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte. Hum Mutat 1993; 2: 221-228 [PMID: 8364590]
17. Zorzetto M, Ferrarotti I, Campo I, Balestrino A, Nava S, Gorrini M, Scabini R, Mazzola P, Luisetti M. Identification of a novel alpha1-antitrypsin null variant (Q0Cairo). Diagn Mol Pathol 2005; 14: 121-124 [PMID: 15905697]
18. Curiel DT, Chytil A, Courtney M, Crystal RG. Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion. J Biol Chem 1989; 264: 10477-10486 [PMID: 2567291]
19. Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med 1986; 314: 736-739 [PMID: 3485248]
20. Lieberman J, Gaidulis L, Klotz SD. A new deficient variant of alpha1-antitrypsin (MDUARTE). Inability to detect the heterozygous state by antitrypsin phenotyping. Am Rev Respir Dis 1976; 113: 31-36 [PMID: 1082282]
21. Nukiwa T, Takahashi H, Brantly M, Courtney M, Crystal RG. alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem 1987; 262: 11999-12004 [PMID: 3040726]
22. Sifers RN, Brashears-Macatee S, Kidd VJ, Muensch H, Woo SL. A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum. J Biol Chem 1988; 263: 7330-7335 [PMID: 3259232]
23. Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, Tinelli C, Campo I, Ottaviani S, Scabini R, von Eckardstein A, Berger W, Brändli O, Rochat T, Luisetti M, Probst-Hensch N. SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem 2008; 54: 1331-1338 [PMID: 18515255 DOI: 10.1373/clinchem.2007.102798]
24. Dongiovanni P, Anstee QM, Valenti L. Genetic Predisposition in NAFLD and NASH: Impact on Severity of Liver Disease and Response to Treatment. Curr Pharm Des 2013; 19: 5219-5238 [PMID: 23394097]
25. Dongiovanni P, Fracanzani AL, Fargion S, Valenti L. Iron in fatty liver and in the metabolic syndrome: a promising therapeutic target. J Hepatol 2011; 55: 920-932 [PMID: 21718726 DOI: 10.1016/j.jhep.2011.05.008]