Fig. 9: A model describing the effects of C19F MGP expression on the growth plate. | Nature Communications

Fig. 9: A model describing the effects of C19F MGP expression on the growth plate.

From: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Fig. 9: A model describing the effects of C19F MGP expression on the growth plate.The alternative text for this image may have been generated using AI.

The C19F variant in MGP results in the impaired processing of the signal peptide and the retention of the mutated protein in the ER. This in turn leads to ER stress and markedly increased deaths of the growth plate prehypertrophic/hypertrophic cells which are known to express MGP at high levels. The cellular alterations may affect the expression and secretion of WT MGP causing the premature closure of the growth plates and the associated skeletal anomalies.

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