Monday, September 17, 2012

Fly models of neurodegenerative disease. Recent review.

This recent review has an emphasis on forward genetic screens, such as screens for the 'bang sensitive' phenotype or for short-lived flies, or using electroretinograms.

Jaiswal M, Sandoval H, Zhang K, Bayat V, Bellen HJ. Probing Mechanisms that Underlie Human Neurodegenerative Disease in Drosophila. Annu Rev Genet. 2012 Sep 4. PubMed PMID: 22974305.

Thursday, September 13, 2012

Fly mauve mutant as model for Chediak-Higashi syndrome. Recent report.

This report describes a new fly model of Chediak-Higashi syndrome (CHS), a disease affecting lysosomes.

Rahman M, Haberman A, Tracy C, Ray S, Kramer H. Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes. Traffic. 2012 Aug 30. doi: 10.1111/tra.12005. PubMed PMID: 22934826.

As of this posting, FlyBase has separate records for mauve (FBgn0014363) and the sequenced region identified as mauve in the paper, CG42863 (FBgn0262110). The CG number or its FlyBase ID pulls up results with a FlyMine search (mauve does not yet match to FlyMine records).

Genes related to fly eye color have contributed to the study of other disease models. See for example this post on a fly glycerol kinase deficiency model.

Looking to get started learning more about CHS? There is summary information about the disease available at GeneReviews.

Drosophila neurodegeneration model and proteomics. Conserved findings. Recent report.

Wishart TM, Rooney TM, Lamont DJ, Wright AK, Morton AJ, Jackson M, Freeman MR, Gillingwater TH. Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo. PLoS Genet. 2012 Aug;8(8):e1002936. PubMed PMID: 22952455; PubMed Central PMCID: PMC3431337

From the abstract:  "... An initial screen targeting thirteen degeneration-associated proteins using mutant Drosophila lines revealed six potential regulators of synaptic and axonal degeneration in vivo. Mutations in CALB2, ROCK2, DNAJC5/CSP, and HIBCH partially delayed injury- nduced neurodegeneration. Conversely, mutations in DNAJC6 and ALDHA1 led to spontaneous degeneration of distal axons and synapses. A more detailed genetic analysis ..."

Wednesday, September 12, 2012

Disease-related ortholog tool improved. DIOPT-DIST with fuzzy search.

The DRSC has just updated the DIOPT-DIST tool to allow for more 'forgiving' searches in the search field, "Or disease full text search."

Before, a search with "Parkinson" might pull up different results than a search with "Parkinson's" or "Parkinsonism" would deliver. Now, all these terms pull up the same list, and even a misspelling like "Parksinson" will get you where you mean to be.

The back end does not have an extensive set of disease synonyms, so the DRSC still suggests trying different synonyms of diseases (or OMIM IDs). But hopefully the fuzzy search will make things a whole lot easier.

Flies on a death spiral. Modeling physiological decline. Recent report.

This recent study describes several assays that can be used to assess physiological and age-related decline in flies.

Shahrestani P, Tran X, Mueller LD. Physiology declines prior to death in Drosophila melanogaster. Biogerontology. 2012 Sep 9. [Epub ahead of print] PubMed PMID: 22960750.

Monday, September 10, 2012

Charcot Marie Tooth Syndrome and Atypical Optic Atrophy. Recent report.

Eschenbacher WH, Song M, Chen Y, Bhandari P, Zhao P, Jowdy CC, Engelhard JT, Dorn GW 2nd. Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila. PLoS One. 2012;7(9):e44296. PubMed PMID: 22957060

See also all posts on CMT.

Fragile-X. Recent report.

Another paper describing use of a fly model of a neurodegenerative disease.

Qurashi A, Liu H, Ray L, Nelson DL, Duan R, Jin P. Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet. 2012 May 1;21(9):2068-75. PubMed PMID: 22298836; PubMed Central PMCID: PMC3315210.

Related resource:  BDSC's page on fly stocks related to fragile-X syndrome.