HUMAN ECTO-MESENCHYMAL CELL LINES HUMSC-PM54 WITH THE PSEN1 (A431E) MUTATION INHERENT TO FAMILIAL ALZHEIMER'S DISEASE, METHODS OF OBTAINING THEM, AND THEIR USES

• Main Authors: ROCHÍN HERNÁNDEZ Lory Jhenifer, PADILLA CRISTERNA Mayte Lizeth, FIGUEROA CORONA María Del Pilar, MERAZ RÍOS Marco Antonio, SANTOS MANDUJANO Rosalía Alejandrina
• Format: Patent
• Language: English; Spanish
• Published: 18.05.2023
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; HUMAN NECESSITIES; HYGIENE; INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES; MEASURING; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS; SPIRITS; TESTING; VINEGAR; WINE

The present invention relates to the development of cellular models for therapeutic studies in Familial Alzheimer's Disease (FAD), specifically to the isolation, establishment, and characterization of two human cell lines, one from an individual symptomatic carrier of the mutation in the Presenilin-1 gene, PSEN1 (A431E), called HUMSC-PM54-PSEN1 (A431E) and another from a control individual, of the same age and sex, who does not present the mutation, called CF55-Control. Said mutation relates to Familial Alzheimer's Disease, both forming the deep olfactory Groove, characterized by its stability so it is proposed as a model of cellular research of the pathology related to Alzheimer's dementia to make in vitro and in vivo studies, through its transfer to animals by intrathecal injection, or different analysis studies on the cells in culture. Said cell lines allow expanding the possibilities and discernment of the biology of this disease in the Mexican population, including studies of dru gs that stop the neurological deterioration of patients. La presente invención, describe el desarrollo de modelos celulares para estudios terapéuticos en la Enfermedad de Alzheimer Familiar (EAF), específicamente se refiere al aislamiento, establecimiento y caracterización de dos líneas celulares humanas; una proveniente de un individuo portador sintomático de la mutación en el gen de Presenilina 1, PSEN1(A431E), denominada HUMSC-PM54-PSEN1(A431E) y otra proveniente de un individuo control, de la misma edad y sexo, que no presenta la mutación, denominada CF55-Control. La mutación mencionada, está asociada a la Enfermedad de Alzheimer Familiar y ambas son provenientes del surco olfatorio profundo, de la cual se caracterizan sus propiedades, se demuestra su estabilidad, por lo que se propone como un modelo de investigación celular de la patología relacionada con la demencia tipo Alzheimer, para hacer estudios in vitro e in vivo, mediante su transferencia a animales por inyección intratecal, o bien diferentes estudios de análisis sobre las células en cultivo, donde con las líneas celulares de la invención se amplían las posibilidades de estudio y discernimiento de la biología de esta enfermedad en la población mexicana, incluyendo estudios de fármacos que detengan el deterioro neurológico de los pacientes.