The evolving spectrum of ciliopathies and respiratory disease
#MMPMID27070443
Milla CE
Curr Opin Pediatr
2016[Jun]; 28
(3
): 339-47
PMID27070443
show ga
PURPOSE OF REVIEW: Research on the biology of cilia, complex hair-like cellular
organelles, has greatly informed our understanding of its crucial role in
respiratory health and the pathogenesis of primary ciliary dyskinesia (PCD),
including the genetics behind this condition. This review will summarize the
current state of the art in the field highlighting its clinical implications.
RECENT FINDINGS: The genetics of PCD have exploded over the past few years as
knowledge acquired from model systems has permitted the identification of genes
that are key components of the ciliary apparatus and its function. In addition,
clinical criteria and diagnostic tools have emerged that permit more clear
identification of affected individuals. SUMMARY: The rate of progress in the
field continues to accelerate through international collaborative efforts and
standardization of methods. Although the genetics behind PCD are complex, given
the large number of genes associated with disease, as well as the large number of
possible mutations even at the individual gene level, this knowledge is rapidly
translating in improved diagnostics and hopefully in the near future in the
identification of potential therapeutics.
free
free
free
