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You searched for +publisher:"Universitat de Barcelona" +contributor:("[email protected]"). One record found.

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Universitat de Barcelona

1. Tell Martí, Gemma. Rol del gen de pigmentació MC1R en la susceptibilitat a malalties neurodegeneratives.

Degree: Departament de Genètica, Microbiologia i Estadística, 2018, Universitat de Barcelona

The melanocortin 1 receptor (MC1R) gene is a key regulator of skin and hair colour. Certain MC1R polymorphisms, which cause a loss of protein function, have been associated with red hair color (RHC) phenotype (red hair, fair skin, high UV sensitivity and low tanning capacity) and a higher risk of developing skin cancer. Although the MC1R is mainly expressed in melanocytes, it is also detected in several types of brain cells. We have identified that skin cells harbouring loss-of-function MC1R polymorphisms show a deregulation of genes involved in pathways related to neurodegenerative diseases, such as Parkinson’s disease (PD), Alzheimer’s disease (AD) and Huntington’s disease (HD). It has also been shown that skin cells with loss-of-function MC1R polymorphisms show a significantly greater oxidative damage, which is a physiological condition found in areas with neuronal degeneration. Based on these evidences, we hypothesize that MC1R gene could be involved in neurodegenerative diseases pathogenesis. We performed two case-control studies to elucidate the role of MC1R in PD and AD. We sequenced the MC1R gene in 870 PD patients, 525 AD patients and 736 controls from Spain. We assessed the role of MC1R as a modifier factor of age of onset (AOO) in HD, sequencing MC1R in 600 HD patients. We analyzed all non-synonymous MC1R variants with a minor allele frequency of at least 0.01. Additionally, we analyzed the gene signature identified in cells harbouring loss-of-function MC1R polymorphisms by protein-protein interaction network analysis (PPI) to identify biological processes related with loss of MC1R function. We found that the allele p.R160W of MC1R increases risk of PD (OR=2.10, 95% CI: 1.18-3.73, adjusted P = 0.009) and that the p.V92M MC1R allele is associated with AD (OR=1.99, 95% CI: 1.08-3.64, adjusted P = 0 026). Furthermore, the p.R151C MC1R allele modifies AOO in HD (Bonferroni-corrected P = 0.032), its effect explains 1.42% of the variance in AOO that cannot be accounted for by the expanded HD allele. Our results suggest that loss of MC1R function may be involved in neurodegenerative diseases etiology through an increased of oxidative damage, autophagy deregulation and reduced anti-inflammatory response. Advisors/Committee Members: [email protected] (authoremail), false (authoremailshow), Puig i Sardà, Susana (director), Puig Butillé, Joan Anton (director), Mestres i Naval, Francesc (tutor), true (authorsendemail).

Subjects/Keywords: Malalties neurodegeneratives; Enfermedades neurodegenerativas; Neurodegenerative Diseases; Melanoma; Melanina; Melanin; Ciències de la Salut; 575

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APA (6th Edition):

Tell Martí, G. (2018). Rol del gen de pigmentació MC1R en la susceptibilitat a malalties neurodegeneratives. (Thesis). Universitat de Barcelona. Retrieved from http://hdl.handle.net/10803/586171

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Tell Martí, Gemma. “Rol del gen de pigmentació MC1R en la susceptibilitat a malalties neurodegeneratives.” 2018. Thesis, Universitat de Barcelona. Accessed November 12, 2019. http://hdl.handle.net/10803/586171.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Tell Martí, Gemma. “Rol del gen de pigmentació MC1R en la susceptibilitat a malalties neurodegeneratives.” 2018. Web. 12 Nov 2019.

Vancouver:

Tell Martí G. Rol del gen de pigmentació MC1R en la susceptibilitat a malalties neurodegeneratives. [Internet] [Thesis]. Universitat de Barcelona; 2018. [cited 2019 Nov 12]. Available from: http://hdl.handle.net/10803/586171.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Tell Martí G. Rol del gen de pigmentació MC1R en la susceptibilitat a malalties neurodegeneratives. [Thesis]. Universitat de Barcelona; 2018. Available from: http://hdl.handle.net/10803/586171

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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