TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling
A new study conducted by a group of researchers of the Institute of Biophysics of Genoa, Anna Boccaccio, Eleonora Di Zanni, Antonella Gradogna, Cristiana Picco, Joachim Scholz-Starke, has obtained promising results on the function of TMEM16E / ANO5, a membrane protein involved in two rare genetic diseases. Mutations in the TMEM16E gene are associated to two different forms of muscular dystrophy and to a skeletal dysplasia, gnatodiaphyseal dysplasia (GDD), characterized by bone fragility and malformation of the jaw and of the long bones. The study, funded by the Telethon Foundation and the Compagnia di San Paolo Foundation, was published in the Human Mutation and highlighted on the journal’s website as an “Editor’s Choice” article (https://doi.org/10.1002/humu.24006) .
The research concerns the study of seven mutations associated with bone dysplasia, and two mutations associated with muscular dystrophy. Functional tests revealed that mutations associated with muscular dystrophy cause a complete loss of protein function, while all those mutations associated with bone disease cause protein hyperactivity.
In conclusion: different mutations cause opposite effects on the protein function according to the type of disease to which they are associated. The pathophysiological role of this protein, both in bone and in muscle, is still unknown and will be the subject of further studies.
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