Conquering the complex world of human septins: implications for health and disease.

[neuralgic amyotrophy]

Septins are highly conserved filamentous proteins first characterized in budding yeast and subsequently identified in must eukaryotes . Septins can bind and hydrolyze GTP , which is intrinsically related to their formation of septin hexamers and functional protein interactions . The human septin family is composed of 14 loci , SEPT 1 -SEPT 14 , which encode dozens of different septin proteins . Their central GTPase and polybasic domain regions are highly conserved but they diverge in their N-terminus and /or C-terminus . The mechanism by which the different isoforms are generated is not yet well understood , but one can hypothesize that the use of different promoters and /or alternative splicing could give rise to these variants . Septins perform diverse cellular functions according to tissue expression and their interacting partners . Functions identified to date include cell division , chromosome segregation , protein scaffolding , cellular polarity , motility , membrane dynamics , vesicle trafficking , exocytosis , apoptosis , and DNA damage response . Their expression is tightly regulated to maintain proper filament assembly and normal cellular functions . Alterations of these proteins , by mutation or expression changes , have been associated with a variety of cancers and neurological diseases . The association of septins with cancer results from alterations of expression in solid tumors or translocations in leukemias [mixed lineage leukemia (MLL )]. Expression changes in septins have also been associated with neurological conditions such as Alzheimer 's and Parkinson 's disease , as well as retinopathies , hepatitis C , spermatogenesis and Listeria infection . Pathogenic mutations of SEPT 9 were identified in the autosomal dominant neurological disorder hereditary neuralgic amyotrophy (HNA ). Human septin research over the past decade has established their importance in cell biology and human disease . Further functional characterization of septins is crucial to our understanding of their possible diagnostic , prognostic , and therapeutic applications .

Diseases
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Diseases presenting "hereditary neuralgic amyotrophy" symptom

neuralgic amyotrophy

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