Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema

摘要

Wan et al. [2010] reported in this journal a non-smoking adult person with Williams-Beuren syndrome and emphysema, and raised the question if defects in the elastin gene are associated with increased susceptibility toward developing chronic obstructive pulmonary disease (COPD) and emphysema. Additional support that haploinsufficiency for the elastin gene could play a role in the pathogenesis of emphysema is supported by the observation of a functional mutation in the elastin gene in two independent persons with early onset COPD [Kelleher et al., 2005; Cho et al., 2009], as well as the fact that changes in the elastin gene are also described in cases of autosomal dominant form of cutis laxa (OMIM 123700) associated with severe premature emphysema [Rodriguez-Revenga et al., 2004; Urban et al., 2005].