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Review
. 2015 Jul 21:8:171-9.
doi: 10.2147/TACG.S56612. eCollection 2015.

Alström syndrome: current perspectives

María Álvarez-Satta  1 , Sheila Castro-Sánchez  1 , Diana Valverde  1
Affiliations
Review

Alström syndrome: current perspectives

María Álvarez-Satta et al. Appl Clin Genet. .

Abstract

Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especially for those without the typical ALMS phenotype. In an effort to deepen the understanding of the pathogenesis of ALMS disease, much work has been done, in order to establish the biological implication of ALMS1 protein, which is still being elucidated. In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, and cellular differentiation, among others. All these progresses will lead to identifying therapeutic targets, thus opening the way to future personalized therapies for human ciliopathies.

Keywords: ALMS1 gene; ALMS1 protein; Alström syndrome; ciliopathies; molecular diagnosis.

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Figures

Figure 1
Figure 1
ALMS1 gene (top) and ALMS1 protein. (bottom). Note: Exons 8, 10, and 16 are marked as mutational hotspots.
Figure 2
Figure 2
Schematic view of biological functions presumably related to ALMS1 protein until now.
See this image and copyright information in PMC

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