Friday, September 7, 2012

Progressive External Ophthalmoplegia. Recent report.

This open access paper reports a new in vivo fly model of disease, in this case modeling autosomal dominant progressive external ophthalmoplegia (adPEO).

Sanchez-Martinez A, Calleja M, Peralta S, Matsushima Y, Hernandez-Sierra R, Whitworth AJ, Kaguni LS, Garesse R. Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. PLoS One. 2012;7(8):e43954. PubMed PMID: 22952820

The fly gene used to model the disease in flies is referred to in the paper as d-mtDNA helicase (d-mtDNA). It has the systematic name CG5924 and the FlyBase ID FBgn0032154.

FlyBase lists 2 TRiP RNAi fly stocks and two additional stocks for CG5924 available from the BDSC, as well as one RNAi fly stock at the VDRC and one transposon insertion strain in the Exilixis collection at HMS. These resources would be useful to study the reduction-of-function phenotypes of the gene, which in this case is different from the disease model, which is based on over-expression.

A related reduction-of-function (RNAi) and over-expression study in fly cells is described in this paper: Matsushima Y, Kaguni LS. Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. J Biol Chem. 2007 Mar 30;282(13):9436-44. PubMed PMID: 17272269.

To read more about adPEO and related diseases or disorders, consider starting here:

adPEO attributed to the twinkle gene at OMIM
PEO search results at OMIM (additional related diseases)
POLG-related disorders at Gene Reviews
Mitochondrial diseases overview at Gene Reviews
Related research projects listed at Orphanet
Info on PEO at Genetics Home Reference

Recommended search term for finding more putative orthologs of PEO-related human disease genes at DIOPT-DIST is "ophthalmoplegia" (without quote marks) in the box "Or disease full text search."

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