Open access paper using a fly model of Alzhemer's Disease.
Iijima-Ando K, Sekiya M, Maruko-Otake A, Ohtake Y, Suzuki E, Lu B, Iijima KM. Loss of Axonal Mitochondria Promotes Tau-Mediated Neurodegeneration and Alzheimer's Disease-Related Tau Phosphorylation Via PAR-1. PLoS Genet. 2012 Aug;8(8):e1002918. PubMed PMID: 22952452.
Monday, September 10, 2012
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."
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."
Thursday, September 6, 2012
Fruit extracts and neurodegeneration. Recent report.
This recent report describes testing the potential therapeutic effects of fruit-derived compounds using a fly model of neurodegenerative disease (a transgenic fly strain expressing human A-beta-42).
Yu Y, Feng XL, Gao H, Xie ZL, Dai Y, Huang XJ, Kurihara H, Ye WC, Zhong Y, Yao XS. Chemical constituents from the fruits of Gardenia jasminoides Ellis. Fitoterapia. 2012 Apr;83(3):563-7. PubMed PMID: 22245087
Models like this in which a disease-associated human gene is expressed in flies are available from the BDSC. Check out BDSC's page on Alzheimers disease fly stocks for example.
Yu Y, Feng XL, Gao H, Xie ZL, Dai Y, Huang XJ, Kurihara H, Ye WC, Zhong Y, Yao XS. Chemical constituents from the fruits of Gardenia jasminoides Ellis. Fitoterapia. 2012 Apr;83(3):563-7. PubMed PMID: 22245087
Models like this in which a disease-associated human gene is expressed in flies are available from the BDSC. Check out BDSC's page on Alzheimers disease fly stocks for example.
Immunity and age-related disease. Recent review.
This open access review discusses fly models related to aging and immunity.
Eleftherianos I, Castillo JC. Molecular mechanisms of aging and immune system regulation in Drosophila. Int J Mol Sci. 2012;13(8):9826-44. PubMed PMID: 22949833
Eleftherianos I, Castillo JC. Molecular mechanisms of aging and immune system regulation in Drosophila. Int J Mol Sci. 2012;13(8):9826-44. PubMed PMID: 22949833
Using Drosophila to study obesity and diabetes. Recent mini-review.
This recent mini-review provides an overview and references for specific models.
Teleman AA, Ratzenböck I, Oldham S. Drosophila: a model for understanding obesity and diabetic complications. Exp Clin Endocrinol Diabetes. 2012 Apr;120(4):184-5. PubMed PMID: 22402943.
Teleman AA, Ratzenböck I, Oldham S. Drosophila: a model for understanding obesity and diabetic complications. Exp Clin Endocrinol Diabetes. 2012 Apr;120(4):184-5. PubMed PMID: 22402943.
Wednesday, September 5, 2012
Parkinson's Disease, Miro and Mitochondria. Recent Report.
Liu S, Sawada T, Lee S, Yu W, Silverio G, Alapatt P, Millan I, Shen A, Saxton W, Kanao T, Takahashi R, Hattori N, Imai Y, Lu B. Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria. PLoS Genet. 2012;8(3):e1002537. PubMed PMID: 22396657; PubMed Central PMCID: PMC3291531.
Related resource: BDSC's collection of Parkinson's disease-related fly stocks.
RNAi fly stocks for dMiro are available from the VDRC and TRiP--see FlyBase record for dMiro.
Related resource: BDSC's collection of Parkinson's disease-related fly stocks.
RNAi fly stocks for dMiro are available from the VDRC and TRiP--see FlyBase record for dMiro.
Tuesday, September 4, 2012
Comparison of the glycobiology of humans and flies. Foundational review.
In this recent review, the authors provide a comparison of human and fly glycobiology and describe the "increasing opportunities to dissect pathologic mechanisms using Drosophila genetics."
Katoh T, Tiemeyer M. The N's and O's of Drosophila glycoprotein glycobiology. Glycoconj J. 2012 Aug 31. PubMed PMID: 22936173
The authors indicate that the proteins and pathways discussed are relevant to a number of diseases, including retinitis pigmentosa, Peters Plus syndrome, and diseases "such as autoimmunity, cancer progression, and congenital heart disease, in which altered mucin type O-glycosylation has been implicated."
Peters Plus syndrome is also known as Krause–van Schooneveld–Kivlin syndrome and Krause–Kivlin syndrome. It is listed on Orphanet and you can read more about it at GeneReviews.
If someone has the time and inclination to pull out the Drosophila gene names mentioned in the paper, and list them as a comment here, please do so.
Katoh T, Tiemeyer M. The N's and O's of Drosophila glycoprotein glycobiology. Glycoconj J. 2012 Aug 31. PubMed PMID: 22936173
The authors indicate that the proteins and pathways discussed are relevant to a number of diseases, including retinitis pigmentosa, Peters Plus syndrome, and diseases "such as autoimmunity, cancer progression, and congenital heart disease, in which altered mucin type O-glycosylation has been implicated."
Peters Plus syndrome is also known as Krause–van Schooneveld–Kivlin syndrome and Krause–Kivlin syndrome. It is listed on Orphanet and you can read more about it at GeneReviews.
If someone has the time and inclination to pull out the Drosophila gene names mentioned in the paper, and list them as a comment here, please do so.
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