Researchers Find New Gene That May be Involved in SBMA

The below article was posted by Catarina Silva in SMA News Today. It is a preliminary study that could lead to further research in this particular area. You can read the entire article by clicking on the link below.

Researchers Find New Gene That May be Involved in Spinal and Bulbar Muscular Atrophy Development

"...DHT did not increase SBMA cellular/genetic changes. However, the team found that several genes involved in the regulation of important neurological processes were dysregulated in SBMA spinal motor neurons upon treatment with DHT.

Among these, the FAM135B gene was reduced by more than 10,000-fold in SBMA spinal motor neurons when compared to healthy cells.

Interestingly, this gene was present at low levels in iPSCs derived from either SBMA or healthy individuals. Its differential expression was only observed once these cells became spinal motor neurons, leading researchers to hypothesize that “this gene plays a functional role in supporting sMN [spinal motor neurons] growth and survival.”

To investigate the functional role of this gene in SBMA, the team genetically engineered healthy spinal motor neurons to express lower levels of FAM135B (similar to what was observed in SBMA spinal motor neurons).

The results revealed a decrease in neuronal projections’ length and spinal motor neurons’ survival, suggesting a specific role for this gene in SBMA.

Interestingly, low levels of FAM135B were not observed in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) iPSC-derived spinal motor neurons, indicating that this differential gene expression pattern is unique to SBMA.

“To date there have been no detailed studies that define a role of FAM135B in the nervous system,” researchers said.

“Future work could be focused on detailed investigation of the role of FAM135B in SBMA. With FAM135B proposed to play roles in neuronal survival, growth and maintenance of structural integrity, it could be speculated that an upregulation of which in [spinal motor neurons] could potentially [reverse the disease-related neuronal changes],” they concluded."