FGF14 Non-coding Repeat Expansions and Ataxia: Current Understanding and Research Gaps

Cepoi, Anastasia (2024) FGF14 Non-coding Repeat Expansions and Ataxia: Current Understanding and Research Gaps. Bachelor's Thesis, Biology.

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Abstract

Ataxia is a progressive neurological disorder affecting voluntary muscle movements, often resulting from cerebellar damage. Causes can either be genetic or acquired. The reasons range from genetic mutations to environmental factors. SCA27 is a rare type of spinocerebellar ataxia associated with intronic GAA repeat expansions in the FGF14 gene. SCA27 shows clinical features of muscle stiffness, gait instability, and tremors that mostly start during adulthood. The GAA expansions interfere with the expression of FGF14 protein, resulting in neurological symptoms, such as impaired neuronal excitability and plasticity. Recent publications have identified FGF14 mutations in many cases previously diagnosed as idiopathic ataxias, underlining its diagnostic relevance. Repeat expansions of non-coding DNA can lead to gene dysregulation through mechanisms such as transcriptional silencing, RNA toxicity, or cryptic splice site generation. Although some progress has been made in determining the role of FGF14 in ataxia, the exact mechanisms of neuronal degeneration remain elusive. Future research should focus on mechanisms of neuronal degeneration, gene and RNA-targeted therapy strategies, and understanding the large genetic landscape. These gaps in knowledge would thus have to be closed to help formulate an effective diagnostic and therapeutic strategy for SCA27 and related ataxias.

Item Type:	Thesis (Bachelor's Thesis)
Supervisor name:	Diemen, C.C. van
Degree programme:	Biology
Thesis type:	Bachelor's Thesis
Language:	English
Date Deposited:	08 Jul 2024 07:46
Last Modified:	09 Jul 2024 11:58
URI:	https://fse.studenttheses.ub.rug.nl/id/eprint/32862

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