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Biochim Biophys Acta. 2015 Jun;1851(6):867-81. doi: 10.1016/j.bbalip.2014.12.001. Epub 2014 Dec 12.

Mendelian disorders of PI metabolizing enzymes.

Author information

1
Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.
2
Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy. Electronic address: dematteis@tigem.it.

Abstract

More than twenty different genetic diseases have been described that are caused by mutations in phosphoinositide metabolizing enzymes, mostly in phosphoinositide phosphatases. Although generally ubiquitously expressed, mutations in these enzymes, which are mainly loss-of-function, result in tissue-restricted clinical manifestations through mechanisms that are not completely understood. Here we analyze selected disorders of phosphoinositide metabolism grouped according to the principle tissue affected: the nervous system, muscle, kidney, the osteoskeletal system, the eye, and the immune system. We will highlight what has been learnt so far from the study of these disorders about not only the cellular and molecular pathways that are involved or are governed by phosphoinositides, but also the many gaps that remain to be filled to gain a full understanding of the pathophysiological mechanisms underlying the clinical manifestations of this steadily growing class of diseases, most of which still remain orphan in terms of treatment. This article is part of a Special Issue entitled Phosphoinositides.

KEYWORDS:

Genetic disease; Lowe syndrome; OCRL; PI kinase; PI phosphatase; Phosphoinositide

PMID:
25510381
DOI:
10.1016/j.bbalip.2014.12.001
[Indexed for MEDLINE]

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