RT info:eu-repo/semantics/bachelorThesis
T1 Identificación de mutaciones deletéreas en MTIF3 asociadas a enfermedad de Parkinson a propósito de un caso clínico
A1 Santamaría Vicario, Inés
A1 Torrillas López, Raquel
A2 Universidad de Valladolid. Facultad de Medicina
K1 Parkinson - Enfermedad de - Caso clínico
K1 Mutación deletérea (Biología)
AB Several genes involved in mitochondrial function have been related to Parkinson’s Disease (PD). Mutations in the mitochondrial serine-threonine kinase PINK1 have been described as causing early-onset autosomal recessive variant of PD. Here we have tested a candidate interactor protein of PINK1, the mitochondrial translation initiation factor 3 (MTIF3) for its potential involvement in PD pathogenesis. MTIF3 encodes a protein which triggers the initiation of complex formation on mitochondrial ribosomes. Dysfunction of MTIF3 leads to vulnerability to oxidative stress, related with neuronal degeneration in PD. We describe a patient affected of PD who carries both, a frameshift and a nonsense mutation in heterozygosis of the MTIF3 gene. We suggest that MTIF3 should be included in the panel of genes screened in PD patients with atypical phenotypes; especially in those with suspected autosomical recessive pattern.
YR 2016
FD 2016
LK http://uvadoc.uva.es/handle/10324/19068
UL http://uvadoc.uva.es/handle/10324/19068
LA spa
DS UVaDOC
RD 22-may-2024