Vesicular Dysfunction and Pathways to Neurodegeneration

Overview

Journal Essays Biochem

Specialty Biochemistry

Date 2021 Dec 13

PMID 34897416

Citations 4

Authors

Patrick A Lewis

Affiliations

Soon will be listed here.

Abstract

Cellular control of vesicle biology and trafficking is critical for cell viability, with disruption of these pathways within the cells of the central nervous system resulting in neurodegeneration and disease. The past two decades have provided important insights into both the genetic and biological links between vesicle trafficking and neurodegeneration. In this essay, the pathways that have emerged as being critical for neuronal survival in the human brain will be discussed - illustrating the diversity of proteins and cellular events with three molecular case studies drawn from different neurological diseases.

Citing Articles

Investigating Neuron Degeneration in Huntington's Disease Using RNA-Seq Based Transcriptome Study.

Sneha N, Dharshini S, Taguchi Y, Gromiha M Genes (Basel). 2023; 14(9).

PMID: 37761940 PMC: 10530489. DOI: 10.3390/genes14091801.

The Pursuit of the "Inside" of the Amyloid Hypothesis-Is C99 a Promising Therapeutic Target for Alzheimer's Disease?.

Takasugi N, Komai M, Kaneshiro N, Ikeda A, Kamikubo Y, Uehara T Cells. 2023; 12(3).

PMID: 36766796 PMC: 9914381. DOI: 10.3390/cells12030454.

Single-vesicle intensity and colocalization fluorescence microscopy to study lipid vesicle fusion, fission, and lipid exchange.

Andersson A, Fornasier M, Makasewicz K, Palmadottir T, Linse S, Sparr E Front Mol Neurosci. 2022; 15:1007699.

PMID: 36533132 PMC: 9751204. DOI: 10.3389/fnmol.2022.1007699.

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.

Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S Brain. 2022; 146(4):1496-1510.

PMID: 36073231 PMC: 10115167. DOI: 10.1093/brain/awac326.

References

Elsayed L, Drouet V, Usenko T, Mohammed I, Hamed A, Elseed M . A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. Ann Neurol. 2015; 79(2):335-7. DOI: 10.1002/ana.24591. View

Olgiati S, Quadri M, Fang M, Rood J, Saute J, Chien H . DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. Ann Neurol. 2015; 79(2):244-56. DOI: 10.1002/ana.24553. View

Ktistakis N, Tooze S . Digesting the Expanding Mechanisms of Autophagy. Trends Cell Biol. 2016; 26(8):624-635. DOI: 10.1016/j.tcb.2016.03.006. View

Cummings J, Lee G, Zhong K, Fonseca J, Taghva K . Alzheimer's disease drug development pipeline: 2021. Alzheimers Dement (N Y). 2021; 7(1):e12179. PMC: 8145448. DOI: 10.1002/trc2.12179. View

van der Brug M, Singleton A, Gasser T, Lewis P . Parkinson's disease: From human genetics to clinical trials. Sci Transl Med. 2015; 7(305):205ps20. PMC: 5995146. DOI: 10.1126/scitranslmed.aaa8280. View

Park J, Lee S, Lee S, Kim Y, Song S, Kim S . Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature. 2006; 441(7097):1157-61. DOI: 10.1038/nature04788. View

Beilina A, Rudenko I, Kaganovich A, Civiero L, Chau H, Kalia S . Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proc Natl Acad Sci U S A. 2014; 111(7):2626-31. PMC: 3932908. DOI: 10.1073/pnas.1318306111. View

Cao J, Hou J, Ping J, Cai D . Advances in developing novel therapeutic strategies for Alzheimer's disease. Mol Neurodegener. 2018; 13(1):64. PMC: 6291983. DOI: 10.1186/s13024-018-0299-8. View

Puls I, Jonnakuty C, LaMonte B, Holzbaur E, Tokito M, Mann E . Mutant dynactin in motor neuron disease. Nat Genet. 2003; 33(4):455-6. DOI: 10.1038/ng1123. View

10.

McFarthing K, Rafaloff G, Baptista M, Wyse R, Stott S . Parkinson's Disease Drug Therapies in the Clinical Trial Pipeline: 2021 Update. J Parkinsons Dis. 2021; 11(3):891-903. PMC: 8461678. DOI: 10.3233/JPD-219006. View

11.

Ebbing B, Mann K, Starosta A, Jaud J, Schols L, Schule R . Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet. 2008; 17(9):1245-52. DOI: 10.1093/hmg/ddn014. View

12.

Kimura S, Tsuruga H, Yabuta N, Endo Y, Nojima H . Structure, expression, and chromosomal localization of human GAK. Genomics. 1997; 44(2):179-87. DOI: 10.1006/geno.1997.4873. View

13.

Morales I, Sanchez A, Puertas-Avendano R, Rodriguez-Sabate C, Perez-Barreto A, Rodriguez M . Neuroglial transmitophagy and Parkinson's disease. Glia. 2020; 68(11):2277-2299. DOI: 10.1002/glia.23839. View

14.

Chanaday N, Cousin M, Milosevic I, Watanabe S, Morgan J . The Synaptic Vesicle Cycle Revisited: New Insights into the Modes and Mechanisms. J Neurosci. 2019; 39(42):8209-8216. PMC: 6794917. DOI: 10.1523/JNEUROSCI.1158-19.2019. View

15.

Kovacs G . Molecular pathology of neurodegenerative diseases: principles and practice. J Clin Pathol. 2019; 72(11):725-735. DOI: 10.1136/jclinpath-2019-205952. View

16.

Blackstone C, OKane C, Reid E . Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci. 2010; 12(1):31-42. PMC: 5584382. DOI: 10.1038/nrn2946. View

17.

Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S . Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science. 2003; 300(5620):808-12. DOI: 10.1126/science.1083129. View

18.

Kaksonen M, Roux A . Mechanisms of clathrin-mediated endocytosis. Nat Rev Mol Cell Biol. 2018; 19(5):313-326. DOI: 10.1038/nrm.2017.132. View

19.

Kanning K, Kaplan A, Henderson C . Motor neuron diversity in development and disease. Annu Rev Neurosci. 2010; 33:409-40. DOI: 10.1146/annurev.neuro.051508.135722. View

20.

Brown R, Al-Chalabi A . Amyotrophic Lateral Sclerosis. N Engl J Med. 2017; 377(2):162-172. DOI: 10.1056/NEJMra1603471. View