August 25, 2022
Sporadic vs Familial ALS
Amyotrophic lateral sclerosis, better known as ALS, is a devastating disease involving severe motor impairment from death of motor neurons. Patients typically only survive for three to five years after their diagnosis, making early detection and treatment of ALS a high-priority area of research.
Early research uncovered three genes involved in familial or inherited forms of ALS. However, clinical trials using these genes as drug targets have largely failed, and familial ALS only accounts for 10% of cases. The other 90% are ‘sporadic’ ALS, meaning that until now, these had no unifying genetic feature or apparent cause, making identification of therapeutic targets extremely challenging.
Apolipoprotein-B-100 and Sporadic ALS
On Monday, Wong et. al. from the Tisch MS Research Center of New York published a potential breakthrough in understanding the cause of sporadic ALS. The authors observed that healthy mice injected with cerebrospinal fluid (CSF) from a person with sporadic ALS developed the characteristic weakness and motor difficulties of ALS.
Comparing the CSF makeup between sporadic and familial ALS patients uncovered a protein, apolipoprotein-B-100, as the most likely culprit for the cause of the observed sporadic ALS. Treatment with apolipoprotein-B-100 alone was sufficient to cause the same symptoms observed with an injection of complete sporadic ALS CSF. However, perhaps even more telling was their observation that when apolipoprotein-B-100 was removed from the sporadic ALS CSF prior to injection, it no longer had neurotoxic effects.
Establishing an effective mouse model of sporadic ALS serves two major functions. First is the identification of apolipoprotein-B-100 itself as a potential cause of sporadic ALS, and its targeted removal from CSF as a therapeutic strategy. But apolipoprotein-B-100 may only be part of the story. Having a robust mouse model of the disease allows next-generation research technologies like single-cell transcriptomics to be applied to these research questions and better understand the underlying mechanisms of the disease, potentially uncovering even more drug targets.
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Jane Cook, Journalist & Content Writer, Bridge Informatics
Jane is a Content Writer at Bridge Informatics, a professional services firm that helps biotech customers implement advanced techniques in the management and analysis of genomic data. Bridge Informatics focuses on data mining, machine learning, and various bioinformatic techniques to discover biomarkers and companion diagnostics. If you’re interested in reaching out, please email [email protected] or [email protected].