A novel missense mutation in <i>SPAST</i> causes hereditary spastic paraplegia in male members of a family: A case report

Wang, Xing-Chen; Liu, Rui-Han; Wang, Ting; Wang, Yanling; Jiang, Yan; Chen, Dandan; Wang, Xinyu; Hou, Tongshu; Kong, Qingxia

doi:10.3892/mmr.2023.12966

Cited by 2 publications

(3 citation statements)

References 17 publications

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“…51206; Qiagen China Co., Ltd.) was used to extract genomic DNA from the peripheral blood samples. Quality testing of the extracted DNA, library construction, hybrid capture and sequencing were performed as previously described ( 29 ). Agarose gel electrophoresis was used to assess the extent of DNA degradation, the presence of RNA, and protein contamination (data not shown).…”

Section: Methodsmentioning

confidence: 99%

Section: Whole-exome Sequencing (Wes)mentioning

confidence: 99%

“…Bioinformatics analysis. Data analysis was performed as described in previous studies (29,30). Alignment between sequencing reads and the human reference genome (version hg19) was performed using the Burrows-Wheeler Alignment tool (version 0.7.15; https://github.com/lh3/bwa).…”

Section: Whole-exome Sequencing (Wes)mentioning

confidence: 99%

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Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor

Liu,

Xiao,

Yao

et al. 2024

Exp Ther Med

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Essential tremor (ET) and Parkinson's disease (PD) are common chronic movement disorders that can cause a substantial degree of disability. However, the etiology underlying these two conditions remains poorly understood. In the present study, Whole-exome sequencing of peripheral blood samples from the proband and Sanger sequencing of the other 18 family members, and pedigree analysis of four generations of 29 individuals with both ET and PD in a nonconsanguineous Chinese family were performed. Specifically, family members who had available medical information, including historical documentation and physical examination records, were included. A novel c.1909A>T (p.Ser637Cys) missense mutation was identified in the eukaryotic translation initiation factor 4γ1 ( EIF4G1 ) gene as the candidate likely responsible for both conditions. In total, 9 family members exhibited tremor of the bilateral upper limbs and/or head starting from ages of ≥40 years, 3 of whom began showing evidence of PD in their 70s. Eukaryotic initiation factor 4 (eIF4)G1, a component of the translation initiation complex eIF4F, serves as a scaffold protein that interacts with many initiation factors and then binds to the 40S ribosomal subunit. The EIF4G1 (p.Ser637Cys) might inhibit the recruitment of the mRNA to the ribosome. In conclusion, the results from the present study suggested that EIF4G1 may be responsible for the hereditary PD with ‘antecedent ET’ reported in the family assessed.

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Section: Methodsmentioning

confidence: 99%

Section: Whole-exome Sequencing (Wes)mentioning

confidence: 99%

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Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor

Liu,

Xiao,

Yao

et al. 2024

Exp Ther Med

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Spastin and alsin protein interactome analyses begin to reveal key canonical pathways and suggest novel druggable targets

Helmold,

Ahrens,

Fitzgerald

et al. 2024

Neural Regeneration Research

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Developing effective and long-term treatment strategies for rare and complex neurodegenerative diseases is challenging. One of the major roadblocks is the extensive heterogeneity among patients. This hinders understanding the underlying disease- causing mechanisms and building solutions that have implications for a broad spectrum of patients. One potential solution is to develop personalized medicine approaches based on strategies that target the most prevalent cellular events that are perturbed in patients. Especially in patients with a known genetic mutation, it may be possible to understand how these mutations contribute to problems that lead to neurodegeneration. Protein-protein interaction analyses offer great advantages for revealing how proteins interact, which cellular events are primarily involved in these interactions, and how they become affected when key genes are mutated in patients. This line of investigation also suggests novel druggable targets for patients with different mutations. Here, we focus on alsin and spastin, two proteins that are identified as “causative” for amyotrophic lateral sclerosis and hereditary spastic paraplegia, respectively, when mutated. Our review analyzes the protein interactome for alsin and spastin, the canonical pathways that are primarily important for each protein domain, as well as compounds that are either Food and Drug Administration- approved or are in active clinical trials concerning the affected cellular pathways. This line of research begins to pave the way for personalized medicine approaches that are desperately needed for rare neurodegenerative diseases that are complex and heterogeneous.

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A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report

Cited by 2 publications

References 17 publications

Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor

Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor

Spastin and alsin protein interactome analyses begin to reveal key canonical pathways and suggest novel druggable targets

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