Autophagosome formation in relation to the endoplasmic reticulum

Yamamoto, Yohei; Noda, Tetsuji

doi:10.1186/s12929-020-00691-6

Cited by 24 publications

(17 citation statements)

References 57 publications

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“…Along with phosphatidylinositol synthase (PIS) and the autophagy-related (Atg) proteins, it is associated with the regulation of the size of autophagosomes. Its over expression increased the diameter of the autophagosomes in non-selective autophagy, and its ablation resulted in a defect in engulfing larger targets (35,36). Thus, considering that only Case 1 as an HSP patient did not bear this nonsensical variant of DNAJC16, and her clinical features were newly progressed, it is worth fast-tracking whether this predicted pathological variant has a synergistic effect on the clinical progress of this HSP pedigree.…”

Section: Discussionmentioning

confidence: 99%

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province

Shen¹,

Zhang²,

Li³

et al. 2022

Ann Transl Med

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Background: Hereditary spastic paraplegia (HSP) is a rare group of genetically heterogeneous, neurodegenerative disorders. The aim of this study was to identify pathological candidate genes and variants in a large pedigree cohort of 11 purely HSP patients in Yunnan Province.Methods: Whole-exome sequencing (WES) was applied to 2 HSP patients and 1 control patient to screen out the candidate gene variants. Then, filtration and verification of these pathological variants were performed by Sanger sequencing.Results: After the raw data were filtered, two genes with novel variations (SPAST: c.1510 C>T, p.Gln504X, RefSeq.NM_199436; DNAJC16: c.718 C>T, p.Q240X, Ref Seq NM_015291) were identified. The accession numbers of the genes in the ClinVar database were SCV001573094 and SCV001573804, respectively. One gene with a reported single nucleotide polymorphism (CPT1C: rs150853576) was filtered as a candidate variant. Using Sanger sequencing, the novel SPAST gene (protein: Spastin) variant leading to a predicted premature termination and an 18% deletion of the SPAST/spastic paraplegia type 4 (SPG4) protein was confirmed to exist only in affected individuals. The candidate CPT1C and DNAJC16 variants were verified in almost all HSP patients, with one exception.Conclusions: Considering that the clinical symptoms and time of onset of HSP are highly heterogeneous, the SPAST as a genotype-phenotype cosegregated variant might be the causative gene of this pedigree, and the other two variants might present cumulative risks to the occurrence and progression of HSP. These three candidate genes with or without novel variants may be potential contributors to disease onset, and therefore useful diagnostic and therapeutic biomarkers. Further research is required to confirm the functions of these genes.

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Section: Discussionmentioning

confidence: 99%

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province

Shen¹,

Zhang²,

Li³

et al. 2022

Ann Transl Med

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“…Autophagosome formation occurs near ER subdomains enriched with phospholipid synthesizing enzymes like phosphatidylinositol synthase ( Vega-Rubín-de-Celis et al, 2020 )/CDP-diacylglycerol-inositol 3-phosphatidyltransferase (CDIPT) and choline/ethanolamine phosphotransferase 1 (CEPT1). ATG2, which transfers lipid molecules from the ER to form autophagosomes, vacuole membrane protein 1 (VMP1) and transmembrane protein 41b (TMEM41b) are ER membrane proteins that are associated with the formation of this subdomain ( Yamamoto and Noda, 2020 ).…”

Section: Key Components In the Dual Role Of Autophagy In Cancersmentioning

confidence: 99%

The Role of Non-Coding RNAs in Autophagy During Carcinogenesis

Cruz‐Ojeda

Flores-Campos

Navarro-Villarán

et al. 2022

Front. Cell Dev. Biol.

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Macroautophagy (autophagy herein) is a cellular stress response and a survival pathway involved in self-renewal and quality control processes to maintain cellular homeostasis. The alteration of autophagy has been implicated in numerous diseases such as cancer where it plays a dual role. Autophagy serves as a tumor suppressor in the early phases of cancer formation with the restoration of homeostasis and eliminating cellular altered constituents, yet in later phases, autophagy may support and/or facilitate tumor growth, metastasis and may contribute to treatment resistance. Key components of autophagy interact with either pro- and anti-apoptotic factors regulating the proximity of tumor cells to apoptotic cliff promoting cell survival. Autophagy is regulated by key cell signaling pathways such as Akt (protein kinase B, PKB), mammalian target of rapamycin (mTOR) and AMP-activated protein kinase (AMPK) involved in cell survival and metabolism. The expression of critical members of upstream cell signaling, as well as those directly involved in the autophagic and apoptotic machineries are regulated by microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). Consequently, non-coding RNAs play a relevant role in carcinogenesis and treatment response in cancer. The review is an update of the current knowledge in the regulation by miRNA and lncRNA of the autophagic components and their functional impact to provide an integrated and comprehensive regulatory network of autophagy in cancer.

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“…ER stress perse can also activate macroautophagy, where ER and other organelles can be sequestered into the autophagosome and delivered to the lysosome for degradation. Growing evidence suggests that the ER supplies the autophagosome membrane, and ER and autophagy are intricately connected [35].…”

Section: Er-phagymentioning

confidence: 99%

Selective Autophagy in Hyperglycemia-Induced Microvascular and Macrovascular Diseases

Bharath

Rockhold

Conway

2021

Cells

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Dysregulation of autophagy is an important underlying cause in the onset and progression of many metabolic diseases, including diabetes. Studies in animal models and humans show that impairment in the removal and the recycling of organelles, in particular, contributes to cellular damage, functional failure, and the onset of metabolic diseases. Interestingly, in certain contexts, inhibition of autophagy can be protective. While the inability to upregulate autophagy can play a critical role in the development of diseases, excessive autophagy can also be detrimental, making autophagy an intricately regulated process, the altering of which can adversely affect organismal health. Autophagy is indispensable for maintaining normal cardiac and vascular structure and function. Patients with diabetes are at a higher risk of developing and dying from vascular complications. Autophagy dysregulation is associated with the development of heart failure, many forms of cardiomyopathy, atherosclerosis, myocardial infarction, and microvascular complications in diabetic patients. Here, we review the recent findings on selective autophagy in hyperglycemia and diabetes-associated microvascular and macrovascular complications.

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Autophagosome formation in relation to the endoplasmic reticulum

Cited by 24 publications

References 57 publications

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province

The Role of Non-Coding RNAs in Autophagy During Carcinogenesis

Selective Autophagy in Hyperglycemia-Induced Microvascular and Macrovascular Diseases

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