title: Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
abstract: Sandhoff disease, Gaucher disease type I and sialidosis type I are lysosomal storage disorders caused, respectively, by deficiency of activity of beta-hexosaminidase (storage of GM(2) and GA(2) ganglioside), glucosylceramidase (storage of glucosylceramide) and alpha-neuraminidase (storage of glucopeptides and/or oligosaccharides). Progressive clinical systemic and neurological dysfunctions are observed. In these pathologies, respiratory infections often lead to death. Elevation of the lung surfactant phosphatidylcholine (PC) has previously been reported in the Hexb mouse, a model of Sandhoff disease. We evaluated phospholipids in the lung surfactant of patients affected by the described lysosomal diseases, observing a statistically significant increase of total lipid phosphate in the patients as compared with controls. Moreover, higher levels of PC in patients affected by sialidosis (3.6-fold) and Gaucher (4-fold) disease, and of PC (4.15-fold) and phosphatidylethanolamine (2.3-fold) in a patient affected by Sandhoff disease were noted. The latter confirms the previous results in the Hexb mouse. We suggest that changes in phospholipid metabolism can be common in different lysosomal storage disorders and can increase the susceptibility to respiratory infections, usually present in these disorders.
authors.affiliation: Department of Neurological and Behavioural Sciences, Section of Neurological Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Buccoliero
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: G
authors.initials: G
authors.lastname: Ciarleglio
authors.forename: A
authors.initials: A
authors.lastname: Collodoro
authors.forename: M M
authors.initials: MM
authors.lastname: De Santi
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000818:Animals; D005776:Gaucher Disease / Q000378:metabolism; D006801:Humans; D008055:Lipids / Q000737:chemistry; D008168:Lung / Q000378:metabolism / Q000473:pathology*; D016464:Lysosomal Storage Diseases / Q000378:metabolism*; D051379:Mice; D010713:Phosphatidylcholines / Q000378:metabolism*; D010714:Phosphatidylethanolamines / Q000378:metabolism; D010743:Phospholipids / Q000378:metabolism; D011663:Pulmonary Surfactants / Q000378:metabolism*
chemical_list: D008055:Lipids; D010713:Phosphatidylcholines; D010714:Phosphatidylethanolamines; D010743:Phospholipids; D011663:Pulmonary Surfactants; C483858:phosphatidylethanolamine