Estrada Mena, Francisco Javier

Main Affiliation

Facultad de Ciencias de la Salud - CampCM

Preferred name

Official Name

Estrada Mena, Francisco Javier

ORCID

0000-0002-0833-3630

Researcher ID

AAI-2437-2020

Scopus Author ID

57192982524

Now showing 1 - 10 of 32

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Novel genome-wide associations for age-related macular degeneration in the sarcoglycan-sarcospan protein complex
(2020)
Asaf Calderon, Andrea Michelle
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Dewan, Andrew
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Ramírez, Israel
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Zepeda-Palacio, Claudia
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Palacio, Claudia
Purpose : Since the advent of genomic approaches, many chromosomal regions and polymorphisms have been associated with age-related macular degeneration (AMD). However, most of the disease variability might not be still captured by current researched genetic markers due to power issues. We have evidence that at least one component of the sarcoglycan-sarcospan protein complex (Sg-Sspn) gene is associated with increased odds of geographic atrophy (GA) AMD. Moreover, the retina of the knocked-out mouse model for the Sg-Sspn phenotypically resembles GA. Here, we aimed to explore the genome-wide association of the Sg-Sspn complex gene regions with AMD.
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Preparation of Mouse Embryonic Eye Sections for Routine Histology
(Springer US, 2026)
Lira-Romero, Esmeralda
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Estrada Mena, Francisco Javier
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Ramírez-Sánchez, Israel
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Development of muscle atrophy and loss of function in a Gulf-War illness model: underlying mechanisms
(2020)
Ramírez-Sánchez, Israel
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Navarrete-Yañez, Viridiana
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Garate-Carrillo, Alejandra
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Loredo Mendoza, María Lilia
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Lira, Esmeralda
Gulf War illness (GWI) afflicts military personnel who served during the Persian Gulf War and is notable for cognitive deficits, depression, muscle pain, weakness, intolerance to exercise, and fatigue. Suspect causal agents include the chemicals pyridostigmine (PB), permetrim (PM) and N,N-diethyl-m-toluamide (DEET) used as protectants against insects and nerve gases. No pre-clinical studies have explored the effects on skeletal muscle (SkM). Young male rats were provided PB, PM and DEET at equivalent human doses and physical restraint (to induce stress) for 3 weeks followed a 3-week recovery. GWI gastrocnemius weight was ~ 35% lower versus controls, which correlated with decreases in myofiber area, limb strength, and treadmill time/distance. In GWI rats, SkM fiber type relative abundance changed towards slow type I. Muscle wasting pathway proteins were upregulated while those that promote growth decreased as did mitochondrial endpoints and muscle ATP levels. Proteomic analysis of SkM also documented unique alterations in mitochondrial and metabolic pathways. Thus, exposure to GWI chemicals/stress adversely impacts key metabolic pathways leading to muscle atrophy and loss of function. These changes may account for GWI Veterans symptoms.
1Scopus© Citations 11 11
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nef/long terminal repeat quasispecies from HIV type 1-infected Mexican patients with different progression patterns and their pathogenesis in hu-PBL-SCID mice
(2000)
Gómez-Román, Víctor Raúl
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Vásquez, Joel A.
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Basualdo, Maria Del Carmen
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Estrada Mena, Francisco Javier
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Soler, Carmen
To examine the genetic features of the long terminal repeat (LTR) derived from six HIV-1-infected individuals enrolled in the Mexico City Cohort, we cloned and sequenced a 505-bp fragment of the proviral LTR from their peripheral blood mononuclear cells (PBMCs). All patients harbored HIV-1 LTR quasispecies corresponding to the B subtype. Three patients with high CD4+ T cell counts (>500/mm3) presented LTR sequences with point mutations in the TAR bulge. The LTR sequence from a patient classified as a long-term nonprogressor (LTNP) presented the most frequent naturally occurring length polymorphism (MFNLP) and two substitutions in the TAR region that were predicted to result in two alternative secondary RNA structures. A novel 18-bp deletion, which eliminates part of the putative binding site for the nuclear factor of activated T cells (NFAT-1), was identified in the overlapping nef/LTR sequence derived from a patient progressing to AIDS. This deletion coincides with the ability of this virus to consistently replicate at low levels in vivo (viral load <500 RNA copies/ml) and in vitro (unsuccessful virus isolation). On one occasion, when virus isolation was successful, the 18-bp deletion was no longer evident and LTR sequences with intact NFAT-1-binding sites were observed. Inoculation of hu-PBL-SCID mice with viruses from several Mexican patients resulted in differential CD4+ T cell depletion patterns 15 days postinfection, which agree with the in vivo CD4+ T cell count data from each patient. © AIDS Research and Human Retroviruses
Scopus© Citations 11 2 12
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Significant Association Between Variant in SGCD and Age-Related Macular Degeneration
(2018)
Luna-Angulo, Alexandra
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Zenteno, Juan Carlos
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Rendon, Álvaro
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Cortes-Ballinas, Liliana Guadalupe
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Jiménez-Collado, David
CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes-for instance, in the dystrophin-associated protein complex-might be promising markers for AMD. Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of an under-studied population from Hispanics in Mexico City, with 134 cases with 134 unpaired controls. Cases were 60 years or older (Clinical Age-Related Maculopathy Staging (CARMS) grade 4⁻5, as assessed by experienced ophthalmologists following the American Association of Ophthalmology (AAO) guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or retinal pigment epithelium (RPE) changes on a fundus exam and a negative family history of AMD. We examined SNPs in the SGCD gene (rs931798, rs140617, rs140616, and rs970476) by sequencing and real-time PCR. Genotyping quality checks and univariate analyses were performed with PLINK v1.90b3.42. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06⁻3.14; p = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03⁻3.21; p = 0.038) compared to the G/G homozygous genotype. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02⁻0.91; p = 0.041). SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted, especially among other Hispanic ethnicities.
Scopus© Citations 3 1 1
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Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins
(2024)
Alexandra Luna-Angulo
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Carlos Landa-Solís
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Rosa Elena Escobar-Cedillo
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Estrada Mena, Francisco Javier
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Laura Sánchez-Chapul
<jats:p>Muscular dystrophies (MDs) are a heterogeneous group of diseases of genetic origin characterized by progressive skeletal muscle degeneration and weakness. There are several types of MDs, varying in terms of age of onset, severity, and pattern of the affected muscles. However, all of them worsen over time, and many patients will eventually lose their ability to walk. In addition to skeletal muscle effects, patients with MDs may present cardiac and respiratory disorders, generating complications that could lead to death. Interdisciplinary management is required to improve the surveillance and quality of life of patients with an MD. At present, pharmacological therapy is only available for Duchene muscular dystrophy (DMD)—the most common type of MD—and is mainly based on the use of corticosteroids. Other MDs caused by alterations in dystrophin-associated proteins (DAPs) are less frequent but represent an important group within these diseases. Pharmacological alternatives with clinical potential in patients with MDs and other proteins associated with dystrophin have been scarcely explored. This review focuses on drugs and molecules that have shown beneficial effects, mainly in experimental models involving alterations in DAPs. The mechanisms associated with the effects leading to promising results regarding the recovery or maintenance of muscle strength and reduction in fibrosis in the less-common MDs (i.e., with respect to DMD) are explored, and other therapeutic targets that could contribute to maintaining the homeostasis of muscle fibers, involving different pathways, such as calcium regulation, hypertrophy, and maintenance of satellite cell function, are also examined. It is possible that some of the drugs explored here could be used to affordably improve the muscular function of patients until a definitive treatment for MDs is developed.</jats:p>
16Scopus© Citations 2
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A new de novo mutation in a non-hot spot region at the DMD gene in a Mexican family
(2015)
Luna-Angulo, A. B.
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Gómez-Díaz, B.
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Escobar-Cedillo, R. E.
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Anaya-Segura, M. A.
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Estrada Mena, Francisco Javier
In this report we present the analysis of a sporadic case of DMD and his family. In the present case, a deletion of exons 18-47 is presented which predicts abolition of the reading frame and is located between the well-known deletion hot spots of the DMD gene. This mutation was not previously reported in the Leiden database (LOVD). Both MLPA and segregation analysis with short tandem repeat markers elucidated the status of the mother, sister and the younger brother of the proband, who were not carriers of the mutation. This case provides a description of a new pathogenic variant presented as de novo mutation in a DMD patient. Haplotype analysis and complete gene screening may improve genetic counseling in cases of germline mosaicism and de novo mutations.
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Effects of (−)-epicatechin on frontal cortex DAPC and dysbindin of the mdx mice
(2017)
Estrada Mena, Francisco Javier
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Rodríguez, Alonso
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Mendoza-Lorenzo, Patricia
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Neri-Gómez, Teresa
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Rodríguez, Sergio
Introduction: Multiple components of the dystrophin-associated protein complex (DAPC) are expressed in numerous tissues including the brain. Members of the DAPC and dysbindin are abnormally expressed in the brain of Duchenne Muscular Dystrophy (DMD) patients, which has been associated with cognitive impairments. However, little is known about the expression pattern of individual members of the DAPC in animal models of DMD and their relationship with dysbindin. Methods: Ten mdx mice were randomly allocated into a control and intervention group [(−)-epicatechin (Epi) 1 mg/kg/day for four weeks] and results compared to a wild-type mice. After sacrifice, brain pre-frontal cortices were collected for Western blotting and immunoprecipitation assays, and sagittal sections processed for immunohistochemistry.
Scopus© Citations 3 2 7
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Influence of GST polymorphisms in the age of onset of cataract: Systematic review and meta-analysis
(2020)
Antonio-Aguirre, Bani
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Palacio Pastrana, Claudia
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Mendoza Velásquez, Cristina
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Camacho-Ordóñez, Azyadeh
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Zepeda-Palacio, Claudia
Purpose : Cataracts are a clinically heterogeneous disorder affecting up to 12% of the population aged 40 years and older. Multiple environmental and genetic factors influence disease susceptibility. Glutathione S-transferase (GST) genes deletion might be involved in cataractogenesis, through impaired conjugation of reduced glutathione. Excessive ROS could promote earlier lens opacification. To date, no systematic studies have assessed the effect of GST polymorphisms and age of onset of cataracts. Here, we aim to evaluate the association between GST polymorphisms, found through a systematic review, on cataracts age of presentation by meta-analysis. Methods : We conducted a systematic search in MEDLINE, HuGENET, and LILACS databases. We included observational studies that determined genotype based on validated genotyping instruments and with a stringent quality check (e.g., genotyping call rate ≥ 95%, HWE in controls). We abstracted counts of null alleles of GSTM1 and GSTT1 in cases and controls. We performed a meta-analysis of these measurements using random and fixed effects models, subgrouping by age of diagnosis. ©Investigative Ophthalmology & Visual Science
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FMR1 CGG repeat distribution and linked microsatellite-SNP haplotypes in normal Mexican Mestizo and indigenous populations
(2006)
Felix-López, Xóchitl Adriana
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Argüello-García, Raúl
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Cerda-Flores, Ricardo M.
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Peñaloza-Espinoza, Rosenda I.
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Buentello-Malo, Leonor
The (CGG)n repeat size distribution in the FMR1 gene was studied in healthy individuals: 80 X chromosomes of Mexican Mestizos from Mexico City and 33 X chromosomes of Mexican Amerindians from three indigenous communities (Purepechas, Nahuas, and Tzeltales), along with alleles and haplotypes defined by two microsatellite polymorphic markers (DXS548 and FRAXAC1) and two single nucleotide polymorphisms (FMRA and FMRB). Genetic frequencies of Mestizo and Amerindian subpopulations were statistically similar in almost all cases and thus were considered one population for comparisons with other populations. Sixteen (CGG)n alleles in the 17–38 size range were observed, and the most common were the 25 (38.0%), 26 (28.3%), and 24 (12.3%) repeat alleles. This pattern differs from most other populations reported, but a closer relation to Amerindian, European, and African populations was found, as expected from the historical admixture that gave rise to Mexican Mestizos. The results of the CA repeats analysis at DXS548-FRAXAC1 were restricted to nine haplotypes, of which haplotypes 7-4 (52.2%), 8-4 (23.8%), and 7-3 (11.5%) were predominant. The modal haplotype 7-4, instead of the nearly universal haplotype 7-3, had been reported exclusively in Eastern Asian populations. Likewise, only seven different FRAXAC1-FMRA-FMRB haplotypes were observed, including five novel haplotypes (3TA, 4TA, 3-A, 4A, and 5A), compared with Caucasians. Of these, haplotypes -A (78.7%) and 3-A (13.2%) were the most common in the Mexican population. These data suggest a singular but relatively low genetic diversity at FMR1 in the studied Mexican populations that may be related to the recent origin of Mestizos and the low admixture rate of Amerindians.
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Estrada Mena, Francisco Javier

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