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Up to 8 rare missense variants of the bassoon (BSN) gene may be present in patients with multiple system atrophy (MSA), according to study findings presented at the International Congress of Parkinson’s Disease and Movement Disorders Society (MDS) Virtual Congress 2021, held from September 17 to 22, 2021.


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Previous research conducted by the current study authors identified variations in the BSN gene in patients with familial progressive supranuclear palsy (PSP)-like syndrome characterized by 3-repeat and 4-repeat tauopathy. The authors noted that “bassoon proteinopathy” underlies neurodegeneration in many conditions, including multiple sclerosis, Huntington disease, juvenile Parkinson disease, amyotrophic lateral sclerosis, and MSA.

Based on previous findings, in the current analysis, the researchers sought to identify variations in the BSN gene in patients with MSA.

Next-generation sequencing was used to detect BSN gene variants. In addition, the Genome Aggregation Database and Human Genetic Variation Database were used to screen missense variants to find rare variants.

A total of 94 patients (57 women; mean age, 59.9±8.9 years) were included in the study. The MSA cerebellar phenotype was found in 60.4% (n=57) of patients. In 9.6% (n=9) of the total cohort, the researchers identified a total of 8 rare missense variants, which included c.1726T>C (p.S576P), c.5021C>G (p.P1674R), c.7541C>G (p.A2514G), c.7649G>A (p.R2550H), c.7783C>T (p.R2595C), c.9436C>T (p.R3146C), c.10823A>C (p.Q3608P), and c.10880G>T (p.G3627V) of BSN gene. None of the patients developed cognitive impairment.

One patient had 2 missense variations, p.S576P and p.P1674R, and 3 patients had the p.G3627V variation that was previously reported by the researchers in sporadic PSP.

Although the researchers identified rare missense variants of the BSN gene in the MSA population, they concluded that “the pathogenicity of their [variations] should be further investigated.”

Reference

Wakita M, Nagai A, Yaguchi H, Yabe I. Mutation analysis of BSN gene in patients with multiple system atrophy. Presented at: MDS Virtual Congress 2021; September 17-22, 2021. Abstract 218.