Invertebrate models of lysosomal storage disease: what have we learned so far?

TY - JOUR

T1 - Invertebrate models of lysosomal storage disease

T2 - what have we learned so far?

AU - Hindle, Samantha

AU - Hebbar, Sarita

AU - Sweeney, Sean T

PY - 2011/12

Y1 - 2011/12

N2 - The lysosomal storage diseases (LSDs) collectively account for death in 1 in 8,000 children. Although some forms are treatable, they are essentially incurable and usually are lethal in the first decade of life. The most intractable forms of LSD are those with neuronal involvement. In an effort to identify the pathological signaling driving pathology in the LSDs, invertebrate models have been developed. In this review, we outline our current understanding of LSDs and recent findings using invertebrate models. We outline strategies and pitfalls for the development of such models. Available models of LSD in Drosophila and Caenorhabditis elegans are uncovering roles for LSD-related proteins with previously unknown function using both gain-of-function and loss-of-function strategies. These models of LSD in Drosophila and C. elegans have identified potential pathogenic signaling cascades that are proving critical to our understanding of these lethal diseases.

AB - The lysosomal storage diseases (LSDs) collectively account for death in 1 in 8,000 children. Although some forms are treatable, they are essentially incurable and usually are lethal in the first decade of life. The most intractable forms of LSD are those with neuronal involvement. In an effort to identify the pathological signaling driving pathology in the LSDs, invertebrate models have been developed. In this review, we outline our current understanding of LSDs and recent findings using invertebrate models. We outline strategies and pitfalls for the development of such models. Available models of LSD in Drosophila and Caenorhabditis elegans are uncovering roles for LSD-related proteins with previously unknown function using both gain-of-function and loss-of-function strategies. These models of LSD in Drosophila and C. elegans have identified potential pathogenic signaling cascades that are proving critical to our understanding of these lethal diseases.

UR - http://www.scopus.com/inward/record.url?scp=84855222491&partnerID=8YFLogxK

U2 - 10.1007/s10158-011-0125-2

DO - 10.1007/s10158-011-0125-2

M3 - Article

C2 - 22038288

VL - 11

SP - 59

EP - 71

JO - Invertebrate neuroscience : IN

JF - Invertebrate neuroscience : IN

IS - 2

ER -