Bibliographic citations
Alarcón, J., Carballo, X. (2023). Características clínicas en personas afectadas con enfermedades mitocondriales que acuden al Instituto Nacional de Ciencias Neurológicas, periodo 2015-2020 [Tesis, Universidad Peruana de Ciencias Aplicadas (UPC)]. http://hdl.handle.net/10757/667206
Alarcón, J., Carballo, X. Características clínicas en personas afectadas con enfermedades mitocondriales que acuden al Instituto Nacional de Ciencias Neurológicas, periodo 2015-2020 [Tesis]. PE: Universidad Peruana de Ciencias Aplicadas (UPC); 2023. http://hdl.handle.net/10757/667206
@misc{renati/1293767,
title = "Características clínicas en personas afectadas con enfermedades mitocondriales que acuden al Instituto Nacional de Ciencias Neurológicas, periodo 2015-2020",
author = "Carballo Tello, Ximena Lucía",
publisher = "Universidad Peruana de Ciencias Aplicadas (UPC)",
year = "2023"
}
Introduction. Mitochondrial diseases are pathologies produced by a dysfunction of the mitochondrial respiratory chain. Its epidemiology is difficult to determine and is influenced by a variety of factors. Numerous genetic variants have been related, with mutations in the mitochondrial circular genome being the most frequent in adults. Its transmission is linked to elements such as heteroplasmy, mitotic segregation, the threshold effect, and maternal inheritance. These disorders can affect people of any age and mainly affect tissues with a high energy demand. Among the main syndromes described are MELAS, Kearns Sayre, Leigh, Leber, NARP and MERRF. Our study will be the first locally to provide a comparative review of mitochondrial diseases affecting the adult population. Objectives. Describe the clinical and genetic characteristics of people with mitochondrial diseases treated in the Neurogenetics Service of the National Institute of Neurological Sciences (INCN) period 2015-2020. Methods. Descriptive, cross-sectional observational study with retrospective collection of information from medical records, with approval of CIEI-INCN No. 660-2020-CIEI-INCN. Results. 48,08% of patients were male, and the median age was calculated as 21 years. The median age of the first symptom was 10 years and the median time to diagnosis was 5 years. In laboratory 21,62% were found with hyperglycemia and 52,94% with elevated serum lactate. Abnormalities occurred in 84,62% of magnetic resonance imaging, 27,59% of electromyography, 31,59% of echocardiogram, and 32,26% of visual evoked potentials. The predominant symptoms included muscle weakness (76,74%), decreased visual acuity (76,19%), and headache (65,12%). The identified diagnoses were MELAS (28,85%), LHON (17,31%), Leigh (17,31%), Kearns Sayre (13,46%), CPEO (7,69%), NARP (5,77 %), MERRF (1,92%) and ruling out mitochondrial disease (7,69%). The phenotypic expression of MELAS syndrome in the Peruvian population is characterized by decreased visual acuity (73.3%), dysarthria (66.6%) and cognitive impairment (66.6%) with higher frequency, in contrast to what is described in the literature. 4 associated genes were identified: MT-ND4 for LHON; TTC19 and MT-ND6 for Leigh and MT-TL1 for Leigh and MELAS. In the exploratory analysis a significant p value was found when evaluating the association between time to diagnosis with degree of instruction (p=0.02), marital status (p = 0.04), decreased visual acuity (p = 0.005), hearing loss (p = 0.05), action tremor (p = 0.03), resting tremor (p=0.04) and dysarthria (p=0,04). Conclusions. The clinical characteristics of mitochondrial diseases are highly heterogeneous, with visual and musculoskeletal disorders being the most frequent and MELAS, Leber and Leigh diseases the most commonly identified. The genetic variants found correspond to 3 mitochondrial genes (MT-TL1, MT-ND4, MT-ND6) and 1 nuclear (TTC19). Our exploratory analysis suggests that degree of instruction, marital status and some symptoms are associated with time to diagnosis. Studies with specific designs are required to corroborate these relationships.
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