Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Orphanet Journal of Rare Diseases
Francesco CalleaEmanuele Bellacchio

Abstract

Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this technique. Therefore, molecular analysis is mandatory for their characterization. In particular, that holds true for the Mmalton variant as on IEF profile it resembles the wild M2 subtype. This is a retrospective analysis involving review of medical records and of liver biopsy specimens from a series of Mmalton, Z and Siiyama Alpha-1-antitrypsin deficiency patients. The review has been implemented by additional histological stains, electron microscopic observations and 3-D modeling studies of the sites of the mutations. Z, Mmalton and Siiyama liver specimen contained characteristic intrahepatocytic PAS-D globules. The globules differed in the three variants as only Mmalton cases showed dark basophilic precipitates within the AAT inclusions. The precipitates were visualized in haematoxylin-eosin (H.E.) stained preparations and corresponded to calcium precipitates as demonstrated by von Kossa staining. On immunohistochemistry, ZAAT inclusions were stained by po...Continue Reading

References

Jul 15, 1977·FEBS Letters·M C Owen, R W Carrell
Dec 1, 1992·Liver·F CalleaV J Desmet
Feb 1, 1988·The American Review of Respiratory Disease·D W Cox, H Levison
Sep 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·A WallmarkS Eriksson
Jul 22, 1982·Nature·R W CarrellD R Boswell
Aug 1, 1996·Nature Structural Biology·P R ElliottJ P Abrahams
Dec 22, 1999·Seminars in Cell & Developmental Biology·E ChevetJ J Bergeron
Jan 5, 2002·The New England Journal of Medicine·Robin W Carrell, David A Lomas
Apr 22, 2004·The Journal of Immunology : Official Journal of the American Association of Immunologists·Matthew W LawlessNoel G McElvaney
Oct 16, 2004·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Sabina JanciauskieneDavid A Lomas
Nov 1, 2005·Biochemical and Biophysical Research Communications·Wonhae LeeJoohong Ahnn
Sep 12, 2009·Liver International : Official Journal of the International Association for the Study of the Liver·Paola FrancalanciFrancesco Callea
Oct 22, 2011·The Korean journal of laboratory medicine·Dae-Hyun KoJunghan Song
Apr 25, 2016·Respiratory Investigation·Kuniaki SeyamaUNKNOWN Respiratory Failure Research Group of the Japanese Ministry of Health, Labour, and Welfare
Jun 2, 2016·The Journal of Biological Chemistry·Xin HuangAiwu Zhou

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Citations

Sep 19, 2018·Orphanet Journal of Rare Diseases·Céline RenouxPhilippe Joly
Jul 2, 2020·Virchows Archiv : an International Journal of Pathology·Michael TorbensonDina Tiniakos
Mar 7, 2021·International Journal of Molecular Sciences·Celine Leon, Marion Bouchecareilh
Apr 2, 2021·The Application of Clinical Genetics·Susana Seixas, Patricia Isabel Marques
Apr 4, 2021·International Journal of Molecular Sciences·Francesco Callea, Valeer Desmet
Jun 3, 2021·International Journal of Molecular Sciences·Francesco CalleaIsabella Giovannoni
Jun 3, 2021·International Journal of Molecular Sciences·Riccardo RonzoniAnnamaria Fra
Jun 22, 2021·The Journal of Asthma : Official Journal of the Association for the Care of Asthma·Isadora Suárez-LorenzoCarlos Rodríguez-Gallego

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Methods Mentioned

BETA
biopsy
biopsies
transmission electron microscopy
light microscopy

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