Gloria G Guerrero-Manríquez¹, Beatriz Rivera-Aguirre², Dagoberto-Cid Guerrero³, Ge`nesis A Mayorquin-Luna⁴, Carlos O Bermúdez-Jiménez², Cesar Gaitán-Fonseca² and Luis A Aguilera-Galaviz²*

¹Universidad Autónoma de Zacatecas Laboratorio de Inmunobiología, Unidad Académica de Ciencias Biológicas. Zacatecas, Zac, México
²Universidad Autónoma de Zacatecas Unidad Académica de Odontología, Programa de Licenciatura de Médico Cirujano Dentista, Especialidad en Odontopediatría y Maestría en Ciencias Biomédicas, Zacatecas, Zac, México
³Hospital General de Zacatecas, Zacatecas, Zac, México
⁴Instituto Politécnico Nacional, Campus Zacatecas, Zacatecas, Zac, México

*Corresponding Author: Luis A Aguilera-Galaviz, Universidad Autónoma de Zacatecas Unidad Académica de Odontología, Programa de Licenciatura de Médico Cirujano Dentista, Especialidad en Odontopediatría y Maestría en Ciencias Biomédicas, Zacatecas, Zac, México.

Received: May 21, 2024; Published: June 11, 2024

Abstract

Leigh syndrome is a neurodegenerative disease has an incidence of 1:40,000 live births and is the most frequent mitochondrial disease in the first year of life. The clinical presentation is variable and includes psychomotor retardation or regression, acute or acidotic neurological episodes, hypotonic, ataxia, spasticity, movement disorders, and multifocal spongiform degeneration throughout the brain, including the basal ganglia, thalamus, cerebellum, trunk brain, spinal cord and optic nerves which can be seen on MRI, occurs due to mitochondrial dysfunction caused by an inherited genetic defect, associated with bilateral lesions of the central nervous system. Herein we report a case of a child with clinical signs of pneumonia, acidosis, and a psychomotor and neurological disorder. A mutation in the mitochondrial Cytochrome C, encoded by the SURF1 gene as found by DNA sequencing. Interestingly, the pattern of genes up and down regulated affected different pathways and reactions (p-values <<<). From the metabolism of proteins, digestion and absorption to ion channel and oxygen transport, mitochondrial functions, and neuronal system. Altogether the results point, and strengthen the paramount importance of an integrated clinic, genetic and molecular diagnostic to carefully monitor any adverse reaction that can worst the state of health of the individuals.

 Keywords: Mitochondrial Diseases; Leigh; Molecular Techniques; Microarrays; Cytokines

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Citation

Citation: Luis A Aguilera-Galaviz., et al. “UP and DOWN Expression of Genes Affects Ion Channels, Oxygen Transport and Mitochondrial Functions in a Case Report Study of Leigh Syndrome”.Acta Scientific Medical Sciences 8.7 (2024): 76-92.

Copyright

Copyright: © 2024 Luis A Aguilera-Galaviz., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.