Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome

Giorgia Testoni, Bárbara Olmeda, Jordi Duran, Elena López-Rodríguez, Mònica Aguilera, María Isabel Hernández-Álvarez, Neus Prats, Jesús Pérez-Gil, Joan J. Guinovart

Research output: Indexed journal article Articlepeer-review

3 Citations (Scopus)

Abstract

The glycogenin knockout mouse is a model of Glycogen Storage Disease type XV. These animals show high perinatal mortality (90%) due to respiratory failure. The lungs of glycogenin-deficient embryos and P0 mice have a lower glycogen content than that of wild-type counterparts. Embryonic lungs were found to have decreased levels of mature surfactant proteins SP-B and SP-C, together with incomplete processing of precursors. Furthermore, non-surviving pups showed collapsed sacculi, which may be linked to a significantly reduced amount of surfactant proteins. A similar pattern was observed in glycogen synthase1-deficient mice, which are devoid of glycogen in the lungs and are also affected by high perinatal mortality due to atelectasis. These results indicate that glycogen availability is a key factor for the burst of surfactant production required to ensure correct lung expansion at the establishment of air breathing. Our findings confirm that glycogen deficiency in lungs can cause respiratory distress syndrome and suggest that mutations in glycogenin and glycogen synthase 1 genes may underlie cases of idiopathic neonatal death.

Original languageEnglish
Pages (from-to)3554-3565
Number of pages12
JournalHuman Molecular Genetics
Volume29
Issue number21
DOIs
Publication statusPublished - 1 Nov 2020
Externally publishedYes

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