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Aggregates in Amyotrophic Lateral Sclerosis : hallmark or cause?

Maas, K.M. (2012) Aggregates in Amyotrophic Lateral Sclerosis : hallmark or cause? Bachelor's Thesis, Biology.

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Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder characterized by the loss of upper and lower motor neurons. A hallmark all ALS patients show are aggregates in these neurons. It is still unknown whether these aggregates are just hallmarks or contribute to disease progression. Mutations discovered to be a cause of ALS are among others mutations in SOD1, TDP-43 and FUS/TLS. This paper tries to establish whether aggregates caused by these mutations are an underlying cause of ALS or just a hallmark and concludes that aggregates can be considered as causative to ALS. Aggregates are toxic to cells by impairing essential cellular functions. Aggregates caused by mutant SOD1 are found in mitochondria and presumably impair mitochondrial function. Aggregates caused by mutant TDP-43 and FUS/TLS need their RNA-binding domain to be toxic and most likely disrupt RNA translation and metabolism.

Item Type: Thesis (Bachelor's Thesis)
Degree programme: Biology
Thesis type: Bachelor's Thesis
Language: English
Date Deposited: 15 Feb 2018 07:48
Last Modified: 15 Feb 2018 07:48

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