Controlled Production of Carnosic Acid and Carnosol in Cell Suspensions of Lepechinia meyenii Treated with Different Elicitors and Biosynthetic Precursors.

Lepechinia meyenii is a medicinal plant specialized in the biosynthesis of different types of antioxidants including the diterpenes carnosic (CA) acid and carnosol (CS). Herein we present the results of plant tissue culture approaches performed in this medicinal plant with particular emphasis on the generation and evaluation of a cell suspension system for CA and CS production. The effect of sucrose concentration, temperature, pH, and UV-light exposure was explored.

Improving the Shelf Life of Avocado Fruit against with Chitosan Hybrid Films Containing Thyme Essential Oil.

Hass avocadoes are one of the most popular fruits consumed worldwide because of their nutritional and nutraceutical content. Nevertheless, these fruits are susceptible to phytopathogen attacks that decrease fruit quality during the postharvest period. Herein we present the results of the in situ fungistatic activity of four hybrid films (FT1−FT4) manufactured with chitosan and different concentrations of the essential oil of thyme (TvEO).

VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.

Introduction: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean.

Objective: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes.

Hernandulcin Production in Cell Suspensions of Phyla Scaberrima: Exploring Hernandulcin Accumulation through Physical and Chemical Stimuli.

Hernandulcin (HE) is a non-caloric sweetener synthesized by the Mexican medicinal plant Phyla scaberrima. Herein we present the results of HE production through cell suspensions of P. scaberrima as well as the influence of pH, temperature, biosynthetic precursors and potential elicitors to enhance HE accumulation.

VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.

Introduction: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean.

Objective: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes.

A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases.

The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky.

Association between nutritional risk markers and polymorphisms rs2291166 in TJP1 and VNTR (CAG)n in ATXN2 in an obese adolescent Mexican population.

Objective: To estimate the correlation between indices of diet quality (DQIs), insulin sensitivity (QUICKI) and resistance (HOMA-IR), waist circumference (WHR) and body mass (BMI) and the alleles and genotypes of the TJP1 SNP rs2291166 and the VNTR of ATXN2 in adolescent patients.

Subjects And Method: The study enrolled 85 subjects aged 10-20years, from the city of Tuxtepec, Oaxaca, Mexico, recruited in the period 2017-2018. DQIs, BMI, WHR, HOMA-IR, QUICKI, and diet quality index were measured.

Genetic approach in amyotrophic lateral sclerosis.

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent.

Aproximación genética en la esclerosis lateral amiotrófica.

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent.

New subtype of familial achondrogenesis type IA (Houston-Harris).

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A.

[Ataxina-2, nuevo blanco en enfermedades genéticas complejas].

El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios.

[New subtype of familial achondrogenesis type IA (Houston-Harris)].

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A.

Epidemiología genética sobre las teorías causales y la patogénesis de la diabetes mellitus tipo 2.

Diabetes mellitus type 2 (DM2) is a worldwide public health problem. The etiology of the disease is multifactorial and is characterized by great heterogeneity of metabolic disorders. The most common are the insufficient production of insulin, insulin resistance and impaired incretin system.

[(CAG)n polymorphism of the ATXN2 gene, a new marker of susceptibility for type 2 diabetes mellitus].

Objective: Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM).

Methods: Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR).

[Association of the ELMO1 gene (snp rs1345365) with development of type 2 diabetes mellitus in the Mexican mestizo population].

The g.37190613 locus on 7p14.2-14.

[High frequency of ancestral allele of the TJP1 polymorphism rs2291166 in Mexican population, conformational effect and applications in surgery and medicine].

Background: TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene.

[Polymorphism g.37190613 G>A of the ELMO1 gene in the Mexican population: potential marker for clinical-surgical pathology].

Background: ELMO1 is a gene located at locus 7p14.2-14.1 that codifies a regulatory protein involved in fibrogenesis, cell migration, phagocytosis and apoptosis.

[Implications in primary health care of medical genetics and genomic in type 2 diabetes mellitus].

Type 2 diabetes mellitus is a complex disease and a global health problem. Therefore, the first level of health care should handle the approaches of medical genetics and genomics to reduce its incidence. The aim is to present perspectives analyzed by our group in two areas of genetics and its clinical application.

[Hypothyroidism incidence and thyrotropin serum levels in newborns].

Background: congenital hypothyroidism is the third sub-clinic hereditary disease in Mexico. Infants with total or partial underactive thyroid gland presented at birth showed high levels of thyrotropin. This allows identifying patients at risk for developing it through screening tests.

[The metabolic and molecular bases of Cockayne syndrome].

Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria, micropenis, renal failure, skeletal abnormalities, skin photosensitivity, decreased subcutaneous adipose tissue, cerebral atrophy, dementia, basal ganglia calcifications, ataxia and apraxia. It has a complex phenotype given by genetic heterogeneity.

[Type 2 diabetes nephropathy: a thresholds complex trait and chromosomal morbid map].

Type 2 diabetes nephropathy is a multifactorial trait whose threshold or limit for the phenotypic expression depends on the additive effect of multiple loci and environmental factors that are specific to each population. After the sequencing of human genome more susceptibility loci through linkage studies and association have been found. The association studies showed involvement 69 loci, whereas genetic linkage studies involved 24 loci.