Researchers identify potential treatment for type of muscle and brain degenerative disease

In fruit flies modeled with IBMPFD disease, mitochondria (red circles) are severely disrupted. Treatment of VCP inhibitors in these diseased flies reversed  mitochondrial damage (green circles). FINDINGSUCLA researchers have discovered the molecular basis of, and identified potential treatment for, an incurable disease known as inclusion body myopathy, Paget disease with frontotemporal dementia, or IBMPFD. Using both genetically engineered fruit flies that have the fly equivalent of the disease gene as well as cells from people with IBMPFD, the researchers discovered how mutations carried by those with IBMPFD cause cellular damage. They also identified two compounds that are able to reverse the effects of IBMPFD-associated mutations in flies and human IBMPFD cells. The findings suggest potential strategies to combat IBMPFD and other degenerative diseases, including amyotrophic lateral sclerosis, commonly known as ALS.BACKGROUNDIBMPFD is an inherited disorder that affects the muscles, the brain and bones. Most people with the disorder show progressive muscle weakness, or myopathy, leading to mobility loss or even respiratory failure. Others develop dementia that predominantly affects language and behavior. No treatment is available to halt progression of the disease. Prior studies showed that mutations in a gene that encodes Valosin-Containing Protein, known as VSP, cause IBMPFD and some forms of ALS. Moreover, in people with IBMPFD, mitochondria, the energy-generating power...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news