Muscular dystrophies are a devastating class of diseases that result in a progressive loss of muscle integrity. Duchenne Muscular Dystrophy, the most prevalent form of Muscular Dystrophy, is due to the loss of functional Dystrophin. While much is known regarding destruction of...
While this in and of itself makes treating mitochondrial disease complex, these organelles contain their own DNA, mtDNA, whose products are required for ATP production, in addition to the hundreds of nucleus-encoded proteins. Drosophila offers a tractable whole-animal model to understand the ...
The Dystrophin protein is encoded by a gene that, when mutated in humans, can cause Duchenne muscular dystrophy, a disease characterized by progressive muscle wasting. A number of Duchenne patients also exhibit poorly understood mental retardation, likely associated with loss of a brain-specific isofo...
4.3. Huntington's Disease and other polyQ Disorders Polyglutamine (polyQ) diseases are devastating and incurable neurodegenerative conditions with autosomal dominant inheritance and worldwide distribution. At least nine polyQ disorders have been described, including HD, spinobulbar ...
Astrocytes influence the severity of spinal muscular atrophy Astrocytes are critical for regulating synapse formation and function as well as metabolic support for neurons. We hypothesized that astrocyte functions are disrupted in SMA, exacerbating disease progression. Using viral-based restoration of ......
Relevant to this study, the Drosophila muscular system has been used to define the molecular basis for muscle organization, aging, and disease12,13. Importantly, the genetic manipulation of muscle cells in rodents often results in lethality, but the same manipulations in Drosophila indirect flight ...
Dominant mutations in five tRNA synthetases cause Charcot–Marie–Tooth (CMT) neuropathy, suggesting that altered aminoacylation function underlies the disease. However, previous studies showed that loss of aminoacylation activity is not required to cause CMT. Here we present aDrosophilamodel for CMT ...
In humans, mutations in the Dystrophin Glycoprotein Complex (DGC) cause muscular dystrophies (MDs) that are associated with muscle loss, seizures and brain abnormalities leading to early death. Using Drosophila as a model to study MD we have found that loss of Dystrophin (Dys) during development...
As a disease model, Drosophila offers a host of advantages: (1) a short life cycle that allows convenient and rapid observation of disease development and progression, (2) genetically tractable with the GAL4/UAS system to achieve cell-type and tissue-specific gene expression, (3) low cost ...
We used larvae expressing a tropomyosin protein trap in muscles (Tropomyosin-GFP under the control of the MHC promoter) to visualize body-wall muscles and spinning disk microscopy, which allowed very fast acquisition of muscular movements (500 ms). First, the larvae were marginally reduced to ...