Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families

Ma, Xinran; He, Ji; Liu, Xiaoxuan

doi:10.3389/fneur.2020.00499

Cited by 5 publications

(2 citation statements)

References 36 publications

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“…There are six REEP family members (REEP1-6) in humans with individual functions. REEP1 mutations are associated with hereditary spastic paraplegias (HSP) due to its lack of cytoplasmic region interaction with microtubules for the ER network [22], for which the HSP was found in the Chinese population [23]. REEP1 was also found to be a biomarker of OSCC metastasis [24].…”

Section: Discussionmentioning

confidence: 99%

The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma

et al. 2023

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There are currently no effective biomarkers for the diagnosis and treatment of tongue squamous cell carcinoma (TSCC), which causes a poor 5-year overall survival rate. Thus, it is crucial to identify more effective diagnostic/prognostic biomarkers and therapeutic targets for TSCC patients. The receptor expression-enhancing protein 6 (REEP6), a transmembrane endoplasmic reticulum resident protein, controls the expression or transport of a subset of proteins or receptors. Although it was reported that REEP6 plays a role in lung and colon cancers, its clinical impact and biological role in TSCC are still unknown. The present study aimed to identify a novel effective biomarker and therapeutic target for TSCC patients. Expression levels of REEP6 in specimens from TSCC patients were determined with immunohistochemistry. Gene knockdown was used to evaluate the effects of REEP6 in cancer malignancy (colony/tumorsphere formation, cell cycle regulation, migration, drug resistance and cancer stemness) of TSCC cells. The clinical impact of REEP6 expression and gene co-expression on prognosis were analyzed in oral cancer patients including TSCC patients from The Cancer Genome Atlas database. Tumor tissues had higher levels of REEP6 compared to normal tissues in TSCC patients. Higher REEP6 expression was related to shorter disease-free survival (DFS) in oral cancer patients with poorly differentiated tumor cells. REEP6-knocked-down TSCC cells showed diminished colony/tumorsphere formation, and they also caused G1 arrest and decreased migration, drug resistance and cancer stemness. A high co-expression of REEP6/epithelial–mesenchymal transition or cancer stemness markers also resulted in poor DFS in oral cancer patients. Thus, REEP6 is involved in the malignancy of TSCC and might serve as a potential diagnostic/prognostic biomarker and therapeutic target for TSCC patients.

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Section: Discussionmentioning

confidence: 99%

The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma

et al. 2023

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“… 102 , 103 Additionally, the SPG31 gene has been correlated with REEP1 , with REEP1 recently identified as the causative gene for dHMN type 5. 104 …”

Section: Intersecting Genes and Metabolic Pathways In Diseases Relate...mentioning

confidence: 99%

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

Awuah,

Tan,

Shkodina

et al. 2023

SAGE Open Medicine

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Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many of which have strong genetic ties. While ageing is a known contributor to these changes, certain neurodegenerative disorders can manifest early in life, progressively affecting a person’s quality of life. Hereditary spastic paraplegia is one such condition that can appear in individuals of any age. In hereditary spastic paraplegia, a distinctive feature is the degeneration of long nerve fibres in the corticospinal tract of the lower limbs. This degeneration is linked to various cellular and metabolic processes, including mitochondrial dysfunction, remodelling of the endoplasmic reticulum membrane, autophagy, abnormal myelination processes and alterations in lipid metabolism. Additionally, hereditary spastic paraplegia affects processes like endosome membrane trafficking, oxidative stress and mitochondrial DNA polymorphisms. Disease-causing genetic loci and associated genes influence the progression and severity of hereditary spastic paraplegia, potentially affecting various cellular and metabolic functions. Although hereditary spastic paraplegia does not reduce a person’s lifespan, it significantly impairs their quality of life as they age, particularly with more severe symptoms. Regrettably, there are currently no treatments available to halt or reverse the pathological progression of hereditary spastic paraplegia. This review aims to explore the metabolic mechanisms underlying the pathophysiology of hereditary spastic paraplegia, emphasising the interactions of various genes identified in recent network studies. By comprehending these associations, targeted molecular therapies that address these biochemical processes can be developed to enhance treatment strategies for hereditary spastic paraplegia and guide clinical practice effectively.

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Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant

Hjartarson,

Skott,

Granberg

et al. 2024

eNeurologicalSci

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Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families

Cited by 5 publications

References 36 publications

The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma

The Clinical and Biological Effects of Receptor Expression-Enhancing Protein 6 in Tongue Squamous Cell Carcinoma

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant

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