ANÀLISI DE LA FUNCIÓ MITOCONDRIAL EN TRASTORNS DEL NEURODESENVOLUPAMENT

Identificador:  TDX:3263

Handle: https://hdl.handle.net/20.500.11797/TDX3263

Autors:  Valiente Pallejà, Alba

Resum:
There are evidences that involve the mitochondrial function as a key factor in some neurodevelopmental disorders (ND) such as autism spectrum disorders (ASD), intellectual disability (ID) and schizophrenia (ESQ). Besides, in these disorders, the presence of clinical characteristics associated with mitochondrial diseases (CCAMDs) is frequently observed. These two premises set the basis of this doctoral thesis, which focuses on the study of this organul and the role it plays in the etiology of some ND. Specifically, several clinical, genetic and metabolic aspects were evaluated in a group of patients with ID (N=115), with ID and ASD (ID-ASD=122), ESQ (N=57) and a control group (N=33). The results showed that, people with DI, DI-ASD and ESQ present higher frequency of certain CCAMDs compared with the control group. In addition, smaller number of mitochondrial DNA copies was found in the aforementioned patients. Furthermore, some variants of nucleotic change that could be pathogenic are observed as well. Patients with ESQ also presented higher lactate levels during physical exercise. Finally, several mitochondrial alterations have also been identified in a family with SCZ and chronic fatigue syndrome. This doctoral thesis suggests that mitochondria plays a relevant role in the etiopathogeny of some psychiatric diseases