Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

Molecular Genetics and Metabolism

Volumn 106, Issue 1, 2012, Pages 99-103

  Lehman, Anna ^a   Mattman, Andre ^b   Sin, Don ^b   Pare, Peter ^b   Zong, Zheyuan ^a   d'Azzo, Alessandra ^c   Campos, Yvan ^c   Sirrs, Sandra ^b   Hinek, Aleksander ^d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Chronic obstructive pulmonary disease; Elastic fiber; Elastogenesis; Emphysema; Galactosialidosis; Lysosomal storage disease

Indexed keywords

ALPHA 1 ANTITRYPSIN; BETA GALACTOSIDASE; CARBOXYPEPTIDASE C; DEXAMETHASONE; LOSARTAN; SIALIDASE; SPIRONOLACTONE;

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; ELASTIC FIBER; ELASTOLYSIS; EMPHYSEMA; FIBROBLAST CULTURE; FORCED EXPIRATORY VOLUME; GALACTOSIALIDOSIS; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; HYPOXEMIA; IMMUNOPRECIPITATION; LUNG FUNCTION; MALE; OXYGEN THERAPY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SWEAT TEST; THORAX RADIOGRAPHY; TRICUSPID VALVE REGURGITATION;

ADULT; BETA-GALACTOSIDASE; CATHEPSIN A; CELLS, CULTURED; ELASTIC TISSUE; ELASTIN; EMPHYSEMA; FIBROBLASTS; GENE EXPRESSION; HUMANS; LYSOSOMAL STORAGE DISEASES; MALE; MICROFILAMENT PROTEINS; NEURAMINIDASE;

EID: 84860187206     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.02.004     Document Type: Article

References (35)

1. D'Azzo A., Hoogeveen A., Reuser A.J., Robinson D., Galjaard H. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. Proc. Natl. Acad. Sci. U. S. A. 1982, 79:4535-4539.
2. Pshezhetsky A.V. Lysosomal carboxypeptidase A. Handbook of Proteolytic Enzymes 2004, 1923-1929. Academic Press, London. N. Rawlings, J.F. Woessner (Eds.).
3. d'Azzo A., Bonten E. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochem. Soc. Trans. 2010, 38:1453-1457.
4. Dazzo A., Andria G., Strisciuglio P., Galjaard H. Galactosialidosis. Online Metabolic and Molecular Bases of Inherited Disease 2007, 1-33. McGraw Hill, New York. D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio (Eds.).
5. Strehle E. Sialidosis: pathophysiology and therapeutic approaches. Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease 2011, Nova Science Publishers, New York. S. Surendran (Ed.).
6. Okamura-Oho Y., Zhang S., Callahan J.W. The biochemistry and clinical features of galactosialidosis. Biochim. Biophys. Acta 1994, 1225:244-254.
7. Kyllerman M., Mansson J.E., Westphal O., Conradi N., Nellstrom H. Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. Pediatr. Neurol. 1993, 9:318-322.
8. Nordborg C., Kyllerman M., Conradi N., Mansson J.E. Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. Acta Neuropathol. 1997, 93:24-33.
9. Itoh K., Kase R., Shimmoto M., Satake A., Sakuraba H., Suzuki Y. Protective protein as an endogenous endothelin degradation enzyme in human tissues. J. Biol. Chem. 1995, 270:515-518.
10. Jackman H.L., Massad M.G., Sekosan M., Tan F., Brovkovych V., Marcic B.M., Erdös E.G. Angiotensin 1-9 and 1-7 release in human heart: role of cathepsin A. Hypertension 2002, 39:976-981.
11. Jackman H.L., Tan F.L., Tamei H., Beurling-Harbury C., Li X.Y., Skidgel R.A., Erdös E.G. A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal "protective protein". J. Biol. Chem. 1990, 265:11265-11272.
12. Privitera S., Prody C.A., Callahan J.W., Hinek A. The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein. J. Biol. Chem. 1998, 273:6319-6326.
13. Pshezhetsky A.V., Hinek A. Serine carboxypeptidases in regulation of vasoconstriction and elastogenesis. Trends Cardiovasc. Med. 2009, 19:11-17.
14. Hinek A., Pshezhetsky A.V., von Itzstein M., Starcher B. Lysosomal sialidase (neuraminidase-1) is targeted to the cell surface in a multiprotein complex that facilitates elastic fiber assembly. J. Biol. Chem. 2006, 281:3698-3710.
15. Seyrantepe V., Hinek A., Peng J., Fedjaev M., Ernest S., Kadota Y., Canuel M., Itoh K., Morales C.R., Lavoie J., Tremblay J., Pshezhetsky A.V. Enzymatic activity of lysosomal carboxypeptidase (cathepsin) A is required for proper elastic fiber formation and inactivation of endothelin-1. Circulation 2008, 117:1973-1981.
16. Starcher B., d'Azzo A., Keller P.W., Rao G.K., Nadarajah D., Hinek A. Neuraminidase-1 is required for the normal assembly of elastic fibers American journal of physiology. Lung Cell. Mol. Physiol. 2008, 295:L637-L647.
17. Chitayat D., Applegarth D.A., Lewis J., Dimmick J.E., McCormick A.Q., Hall J.G. Juvenile galactosialidosis in a white male: a new variant. Am. J. Med. Genet. A 1988, 31:887-901.
18. X.Y. Zhou, A. van der Spoel, R. Rottier, G. Hale, R. Willemsen, G.T. Berry, P. Strisciuglio, A. Morrone, E. Zammarchi, G. Andria, A. d'Azzo, Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Human Molecular Genetics 5 (1996) 1977-1987.
19. Lee P., Gildea T.R., Stoller J.K. Emphysema in nonsmokers: alpha 1-antitrypsin deficiency and other causes. Cleve. Clin. J. Med. 2002, 69:928-929. 933, 936 passim.
20. Hinek A., Smith A.C., Cutiongco E.M., Callahan J.W., Gripp K.W., Weksberg R. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am. J. Hum. Genet. 2000, 66:859-872.
21. Barnett C.P., Chitayat D., Bradley T.J., Wang Y., Hinek A. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?. Eur. J. Hum. Genet. 2011.
22. Hinek A., Wilson S.E. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am. J. Pathol. 2000, 156:925-938.
23. Autio-Harmainen H., Oldfors A., Sourander P., Renlund M., Dammert K., Similä S. Neuropathology of Salla disease. Acta Neuropathol. 1988, 75:481-490.
24. Pääkkö P., Ryhänen L., Rantala H., Autio-Harmainen H. Pulmonary emphysema in a nonsmoking patient with Salla disease. Am. Rev. Respir. Dis. 1987, 135:979-982.
25. Malvagia S., Morrone A., Caciotti A., Bardelli T., d'Azzo A., Ancora G., Zammarchi E., Donati M.A. New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Mol. Genet. Metab. 2004, 82:48-55.
26. Tatano Y., Takeuchi N., Kuwahara J., Sakuraba H., Takahashi T., Takada G., Itoh K. Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. J. Med. Investig. 2006, 53:103-112.
27. Cuervo A.M., Mann L., Bonten E.J., d'Azzo A., Dice J.F. Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. EMBO J. 2003, 22:47-59.
28. Hubmacher D., Apte S.S. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function. Cell. Mol. Life Sci. 2011, 68:3137-3148.
29. Sabatier L., Chen D., Fagotto-Kaufmann C., Hubmacher D., McKee M.D., Annis D.S., Mosher D.F., Reinhardt D.P. Fibrillin assembly requires fibronectin. Mol. Biol. Cell 2009, 20:846-858.
30. Satake A., Itoh K., Shimmoto M., Saido T.C., Sakuraba H., Suzuki Y. Distribution of lysosomal protective protein in human tissues. Biochem. Biophys. Res. Commun. 1994, 205:38-43.
31. Turner-Stokes L., Turton C., Pope F.M., Green M. Emphysema and cutis laxa. Thorax 1983, 38:790-792.
32. Wood J.R., Bellamy D., Child A.H., Citron K.M. Pulmonary disease in patients with Marfan syndrome. Thorax 1984, 39:780-784.
33. Habashi J.P., Judge D.P., Holm T.M., Cohn R.D., Loeys B.L., Cooper T.K., Myers L., Klein E.C., Liu G., Calvi C., Podowski M., Neptune E.R., Halushka M.K., Bedja D., Gabrielson K., Rifkin D.B., Carta L., Ramirez F., Huso D.L., Dietz H.C. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006, 312:117-121.
34. Bunda S., Liu P., Wang Y., Liu K., Hinek A. Aldosterone induces elastin production in cardiac fibroblasts through activation of insulin-like growth factor-I receptors in a mineralocorticoid receptor-independent manner. Am. J. Pathol. 2007, 171:809-819.
35. Bunda S., Wang Y., Mitts T.F., Liu P., Arab S., Arabkhari M., Hinek A. Aldosterone stimulates elastogenesis in cardiac fibroblasts via mineralocorticoid receptor-independent action involving the consecutive activation of Galpha13, c-Src, the insulin-like growth factor-I receptor, and phosphatidylinositol 3-kinase/Akt. J. Biol. Chem. 2009, 284:16633-16647.