What is it about?
Spinal and bulbar muscular atrophy (SBMA) is an X-linked and late-onset progressive neuromuscular disease caused by a CAG repeat (polyglutamine; polyQ) expansion in the androgen receptor (AR) gene caused by molecular mechanisms, which to the day remain elusive.
Featured Image
Photo by Lucas Vasques on Unsplash
Why is it important?
S-nitrosylation (SNO) is a redox-triggered post-translational modification. SNO can serve as a significant regulator of signal transduction pathways, much like phosphorylation. Also, aging and late-onset can result in abnormal SNO reactions as well as several neurodegenerative diseases. However, it is unknown how SNO contributes to SBMA pathogenesis and whether SNO represents a target for therapy in SBMA.
Perspectives
In our pilot study, we saw that it may not be possible to generate a model for each known mitochondrial disease variant. However, it will be invaluable trying generate three-dimensional muscle models for the most common mitochondrial variants.
Valeria Di Leo
Newcastle University
We found that S-nitrosylation could regulate AR genomic activity by affecting the ability of AR, and this function is altered in SBMA.
Dr. Yasumasa Hashimoto
Read the Original
This page is a summary of: Abstracts of the 17th UK Neuromuscular Translational Research Conference, 17th and 18th April 2024, Journal of Neuromuscular Diseases, April 2024, IOS Press,
DOI: 10.3233/jnd-249001.
You can read the full text:
Resources
Contact to get more information
We explore the regulatory mechanisms that govern transcription and genome expression in neurons and skeletal muscles, with the ultimate goal to translate this understanding into treatments for patients with neurological and neuromuscular diseases.
Oxford, IDRM
Dr. Hashimoto, M.D., Ph.D., is a neurologist and neuroscientist. Dr Hashimoto focuses on the molecular mechanism and gene therapy for neuromuscular disorders, such as SBMA and DMD/BMD. Dr Hashimoto has a broad background and extensive experience in clinical neurology, neuroscience and molecular therapeutic research.
Contributors
The following have contributed to this page
