Mr. Luis Gustavo Celis Regalado

Co-authors

Following

Followers

Research Focus & Metrics

Explore full metrics on Scilit

Academic Career Length

21Years (2006-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

View All Publications

26 August 2023 in Genes

Journal Article

Application of the Yamanaka Transcription Factors Oct4, Sox2, Klf4, and c-Myc from the Laboratory to the Clinic

Marisol Aguirre

Manuela Escobar

Sebastián Forero Amézquita

David Cubillos

Camilo Rincón

Luis Gustavo Celis Regalado

The transcription factors Oct4, Sox2, Klf4, and c-Myc enable the reprogramming of somatic cells into induced pluripotent cells. Reprogramming generates newly differentiated cells for potential therapies in cancer, neurodegenerative diseases, and rejuvenation processes. In cancer therapies, these transcription factors lead to a reduction in the size and aggressiveness of certain tumors, such as sarcomas, and in neurodegenerative diseases, they enable the production of dopaminergic cells in Parkinson’s disease, the replacement of affected neuronal cells in olivopontocerebellar atrophy, and the regeneration of the optic nerve. However, there are limitations, such as an increased risk of cancer development when using Klf4 and c-Myc and the occurrence of abnormal dyskinesias in the medium term, possibly generated by the uncontrolled growth of differentiated dopaminergic cells and the impairment of the survival of the new cells. Therefore, the Yamanaka transcription factors have shown therapeutic potential through cell reprogramming for some carcinomas, neurodegenerative diseases, and rejuvenation. However, the limitations found in the studies require further investigation before the use of these transcription factors in humans.

7 May 2019 in Genes

Journal Article

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Hernan Yupanqui-Lozno

Raul Bastarrachea

Maria E. Yupanqui-Velazco

Monica Alvarez

Esteban Medina-Méndez

Luis Gustavo Celis Regalado

+12

Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secretion or the phenomenon of biologically inactive leptin, but typically lead to an absence of circulating leptin, resulting in a rare type of monogenic extreme obesity with intense hyperphagia, and serious metabolic abnormalities. Methods: We present two severely obese sisters from Colombia, members of the same lineal consanguinity. Their serum leptin was measured by MicroELISA. DNA sequencing was performed on MiSeq equipment (Illumina) of a next-generation sequencing (NGS) panel involving genes related to severe obesity, including LEP. Results: Direct sequencing of the coding region of LEP gene in the sisters revealed a novel homozygous missense mutation in exon 3 [NM_002303.3], C350G>T [p.C117F]. Detailed information and clinical measurements of these sisters were also collected. Their serum leptin levels were undetectable despite their markedly elevated fat mass. Conclusions: The mutation of LEP, absence of detectable leptin, and the severe obesity found in these sisters provide the first evidence of monogenic leptin deficiency reported in the continents of North and South America.

29 November 2020 in Genes

Journal Article

Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

Adriana Vargas

Jorge Rojas

Ivan Aivasovsky

Sergio Vergara Cardenas

Marianna Castellanos

Luis Gustavo Celis Regalado

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins lysine with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing loss, leukodystrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, the impairment of the mitochondrial respiratory chain, and hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.

17 January 2023 in Cureus

Journal Article

Osteogenesis Imperfecta: A Case Series and Literature Review

Constanza Neri Morales

Alejandra Silva Amaro

José D. Cardona

Joanna L. Bendeck

Karen Cifuentes Gaitan

Luis Gustavo Celis Regalado

Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by the loss of bone density and mass, which increases the fragility of the bones, thus presenting multiple fractures throughout the years followed by bone deformity and articular instability. This condition has various clinical presentations. We present four cases of OI, one case with type I, two cases with type II, and one case with type III. The clinical diagnosis in most of the cases was clinical; only one of them was confirmed with genomic sequence. The treatment of these cases was based on medication, orthopedic surgery, and recovery and physical therapy. The evolution was torpid in these cases but with prolonged life expectancy despite the severity and type of OI. It is important to highlight that the patients did not have a neurocognitive compromise. Early diagnosis and multidisciplinary medical management are crucial in obtaining better outcomes for this disease, improving the quality of life, and avoiding complications.

26 May 2025 in Adipocyte

Journal Article

One-year metreleptin in Colombian sisters with congenital leptin deficiency

Hernan Yupanqui-Lozno

Jancy Andrea Huertas-Quintero

Maria E. Yupanqui-Velazco

Rocío A. Salinas-Osornio

Carlos M. Restrepo

Raul Bastarrachea

We discovered two adult sisters in Colombia, lineally consanguineous, with severe obesity and undetectable serum leptin levels despite markedly elevated body fat. Their clinical profile included childhood-onset extreme weight gain, intense hunger, hyperphagia, hypogonadotropic hypogonadism, and family history of obesity. Direct sequencing of the LEP gene revealed a novel homozygous missense mutation in exon 3 (c.350G>T [p.C117F]). The presence of this mutation, undetectable leptin, and severe obesity confirmed a diagnosis of monogenic leptin deficiency. Here we describe the clinical outcomes of a 12-month treatment with recombinant human leptin (metreleptin). Metabolic and endocrine assessments were conducted before and after therapy. Metreleptin therapy significantly reduced BMI: from 59 to 38 kg/m² (OBX1, age 27) and 60 to 48 kg/m² (OBX2, age 24). Total body fat mass decreased, serum lipids normalized, and insulin sensitivity improved. Hypogonadotropic hypogonadism reversed, and menstruation resumed. Thus, metreleptin reversed the major metabolic and endocrine abnormalities associated with leptin deficiency in these sisters. Limitations include the small sample size, absence of a control group, and lack of anti-metreleptin antibody measurements. Nevertheless, our findings support that leptin replacement with metreleptin is currently the only effective hormonal treatment for this monogenic form of human obesity.

12 September 2019 in Scientific Journal of Genetics and Gene Therapy

Journal Article

Detection of new mutations in 3 cases de novo tuberous sclerosis

Carlos Andrés Quintero Vásquez

Isabel Fernández González

María Luisa Quevedo Camera

Angélica María García Ordoñez

Luis Gustavo Celis Regalado

The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology,

About Me

Dr. Luis Gustavo Celis is a research biologist and a specialist in immunology, bioethics, and prospective and organizational strategy. He has a master's in biology with an emphasis on human genetics. He is also a professor at multiple Colombian universities, such as Los Andes, La Sabana, UDCA, and Externado, both for undergraduate and graduate degrees; a planner for the National Council for Scientific Research and Technology (CONICIT), Caracas, Venezuela; a technological foresight program advisor in biotechnology at the Institute of Biomedicine of the National University of Colombia, Santafé de Bogotá, Colombia; a multinational program consultant of biotechnology and food technology for the Organization of States Americans (OEA)—Colciencias; the coordinator of the chair of genetics and the Diploma in Molecular Biology from the Faculty of Medicine of the University of Savannah; an academic pair designated by the Colombian Association of Faculties of Medicine (Ascofame) for the application of quality tests for higher education (ECAES); the secretary for the Colombian Association of Human Genetics (Acgh); and the treasurer for the Latin American Mutagenesis Association, Carcinogenesis and Environmental Teratogenesis (ALAMTA). He completed an internship in the retroviral infections unit of the virology department of the Louis Pasteur Institute, Paris—France. Since October 2021, he has been the director of the Latin American Network of Ethics Committees in Clinical Research.

Mr. Luis Gustavo Celis Regalado

Mr. Luis Gustavo Celis Regalado

Research Focus & Metrics

Academic Career Length

Publication Type Breakdown

Representative Publications

About Me