Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort

Article Clinical Neurology

Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis

Chunyu Li et al.

Summary: This study aimed to explore the genetic role of TFG in alpha-synucleinopathy and ALS. Through whole-exome sequencing analysis, rare protein-coding variants were found not to be enriched in patients. However, the specific variant p.R383H may have potential pathogenicity.

MOVEMENT DISORDERS (2022)

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Article Geriatrics & Gerontology

Negative Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of cases

Allison A. Dilliott et al.

Summary: A recent study suggested an association between rare non-synonymous variants in the TP73 gene and ALS, but the study had a relatively small sample size and the clinical significance of the results remains unclear. This study aimed to replicate the genetic association using two large ALS sequencing datasets and found no enrichment of rare protein-coding variants in ALS cases. Surprisingly, a relatively large number of controls were found to carry rare non-synonymous variants in TP73. Based on these results, the researchers concluded that TP73 most likely does not predispose to ALS.

NEUROBIOLOGY OF AGING (2022)

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Article Biochemistry & Molecular Biology

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel et al.

Summary: This study identifies SPTLC1 variants causing excessive sphingolipid biosynthesis as a monogenic form of ALS. Disruption of normal SPT regulation by ORMDL proteins leads to uncontrolled SPT activity and elevated levels of canonical SPT products. Custom-designed small interfering RNAs that selectively target the SPTLC1 ALS allele for degradation offer a potential therapeutic approach to normalize sphingolipid levels.

NATURE MEDICINE (2021)

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Article Clinical Neurology

Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis

Kristi L. Russell et al.

Summary: Novel disease associated loci for amyotrophic lateral sclerosis (ALS) were identified through sequencing data and experimental validation, showing that mutations in TP73 correlate with ALS risk and suggest a role for apoptosis in ALS pathology.

NEUROLOGY (2021)

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Review Cell Biology