Netherton set of symptoms is caused by the emasculate predicament of proteins well known as serine proteases, that causes serious skin redness and scaling. In this study, the serine protease ELA2 was found to be voiced in both rodent and human skin cells (keratinocytes). Importantly, ELA2 was found to be hyperactive in skin from patients with Netherton syndrome.
Further, transgenic mice overexpressing ELA2 in the epidermal covering of the skin exhibited cellular abnormalities characteristics of Netherton set of symptoms and these led to dehydration.
As these interpretation prove that ELA2 is expected to have an critical purpose in the skin separator forsake seen in patients with Netherton syndrome, the authors indicate that ELA2 competence yield a new aim for the diagnosis of Netherton syndrome.
The investigate appears in the Journal of Clinical Investigation.
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