Preliminary Analysis of Unsaturated Fatty Acid Profiles of Coffea arabica L., in Samples with a Denomination of Origin and Speciality of Oaxaca, Mexico.

In February 2020, Coffea arabica L. grown on the coast and in the Southern Sierra Madre of the state of Oaxaca, Mexico obtained the denomination of origin. Which does not have data on color and chemical composition, the first associated with the degree of roasting and the second with lipids (17-18%), as the group of compounds responsible, in part, for flavor, consistency, and may contribute to health benefits. In the present work, color was determined on the CIE L*a*b* scale and the unsaturated fatty acids by Nuclear Magnetic Resonance (NMR) of 1H and 13C in samples of medium roasted specialty coffee from the "Pluma" coffee-growing region, Oaxaca, Mexico. The average value of L* luminosity in ground coffee was 42.1 ± 0.1 reported for a light roast. Unsaturated fatty acids were quantified from the lipid fraction of the gr1 ound grain by NMR 1H and 13C, obtaining on average the highest abundance of linoleic (41.7 ± 0.5 by 1 H and 41.24 ± 0.5 by 13C), followed by oleic (9.2 ± 0.2 by 1H and 7.4 ± 0.2 by 13C) and linolenic (1.5 ± 0.1 by H and 1.1 ± 0.2 by 13C). This study indicates that 1H and 13C NMR spectroscopy is a useful tool for the quantification of linolenic, linoleic, and oleic fatty acids by the method of key signal shifts of these acids found in lipid samples in roasted coffee grains.

Evaluación de la microencapsulación de ácidos húmicos y fúlvicos para ser empleados en la fertilización de liberación controlada para plantas de ornato con alto valor comercial / Evaluation of the microencapsulation of humic and fulvic acids to be used in controlled release fertilization for ornamental plants with high commercial value

El objetivo del presente trabajo es evaluar la microencapsulación de ácidos humícos y fúlvicos para ser empleados en la fertilización a través de la liberación controlada para plantas de ornato con un alto valor comercial, con ello se busca generar una alternativa de reducción en el impacto ambiental provocado por otros tipos de fertilizantes para los mismos fines, es importante mencionar que la producción de plantas de ornato es considerada como una industria que requiere de costos elevados durante su iniciación y mantenimiento, destacando el incremento de costos debido a la utilización de materiales importados tales como: vermiculitas, lana roca, turbas, muzgos, nitrato de potasio, nitrato de calcio y fosfonitratos, se debe tomar en cuenta que los productos comerciales más utilizados para la fertilización han demostrado poseer propiedades fisicoquímicas adecuadas para el desarrollo de los cultivos por lo tanto, el desarrollo de fertilizantes alternativos a los tradicionales habrán de cuidar de manera especial dichos aspectos, además de no ocasionar daño al suelo evitando así la generación de contaminantes residuales.(AU)

The objective of this work is to evaluate the microencapsulation of humic and fulvic acids to be used in fertilization through controlled release for ornamental plants with a high commercial value, thereby seeking to generate an alternative to reduce the impact environmental caused by other types of fertilizers for the same purposes, it is important to mention that the production of ornamental plants is considered as an industry that requires high costs during its initiation and maintenance, highlighting the increase in costs due to the use of imported materials such as: vermiculites, rock wool, peat, muzgos, potassium nitrate, calcium nitrate and phosphonitrate, it should be taken into account that the most used commercial products for fertilization have shown to have adequate physicochemical properties for the development of crops, therefore, the development of alternative fertilizers to the traditional ones will have to take special care of these aspects, in addition to not causing damage to the soil, thus avoiding the generation of residual contaminants.(AU)

Intermittent fasting may optimize intestinal microbiota, adipocyte status and metabolic health.

The aim of this review is to provide an overview of the present association between Intermittent Fasting (IF), the Gut Microbiota (GM), and the adipocyte with respect to Metabolic Health (MH). A search was carried out through Dialnet, Scielo, Web of Science, Redalyc and PubMed, using keywords such as: "intermittent fasting", "time-restricted feeding", "gut microbiota" and "Metabolic Health". Intermittent fasting (IF) regimens promote weight loss, therefore contributing to improved metabolic health. IF beneficially participates in the modulation of the intestinal microbiome, allowing a continuous interaction with nutrients to be digested and shaping the intestinal immune responses during the development of cardiovascular disease, blood pressure and diabetes mellitus through metabolic activities.

Fatty Acids and Lipid Derivatives Protecting Photooxidative Attack in Age-related Macular Degeneration.

The objective is the systematic review of studies published in Scielo, Redalyc, Dialnet, Web of Science, Scopus and Pubmed, related to the inclusion of fatty acids and lipid derivatives in the daily diet to prevent or delay the appearance or progression of Age-Related Macular Degeneration (AMD). The analysis of the research results consulted shows that AMD is one of the most frequent causes of blindness in subjects over 55 years of age. AMD is characterized by decreased vision, metamorphopsia, macropsies, micropsies, and central scotoma. Disease that must be diagnosed early as it can lead to irreversible blindness. Among the components of the diet that in numerous epidemiological studies have shown an association in the treatment of AMD and that are reviewed in this work are fatty acids, vitamins and carotenoids. There is ample evidence that fatty acids and lipid derivatives can be included in the diet plans of subjects with AMD.

Vitis vinifera: An Alternative for the Prevention of Neurodegenerative Diseases.

To present a systematic review of published studies in databases such as PUBMED, REDALYC, SCIELO, DIALNET, SCOPUS, EBSCO and CONRICYT related to the role-played by the components present in the vegetable oil of grape seed (Vitis vinífera) and the prevention or delay in the onset or progression of neurodegenerative diseases. The analysis of the research revealed that neurodegenerative diseases causes alterations in consciousness or in the nervous system leading to severe damage in neuronal cells, these pathologies are considered gradual and progressive. Various syndromes manifest the degenerative diseases of the nervous system; in some of them the predominant symptom is the progressive dementia. Among the components of the diet that in numerous epidemiological studies have shown an inverse association are vitamins, minerals, carotenoids, polyunsaturated fatty acids and polyphenols, the latter being the ones addressed in this document. There is an important evidence that a nutritional support based on polyunsaturated fatty acids and antioxidants can be applied to subjects with a history of neurodegenerative conditions in order to act as neuroprotectors. This requires the determination of the nutritional benefits of these nutrients or of nutraceuticals for the health of this group of patients.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are one of the main causes of visual handicap worldwide. They can arise from multifactorial, chromosomal, or monogenic factors and can be associated with extensive clinical variability. Genetic analysis of individuals with these defects has allowed the recognition of dozens of genes whose mutations lead to disruption of normal ocular embryonic development. Recent application of next generation sequencing (NGS) techniques for genetic screening of patients with congenital eye defects has greatly improved the recognition of monogenic cases. In this study, we applied clinical exome NGS to a group of 14 Mexican patients (including 7 familial and 7 sporadic cases) with microphthalmia and/or anophthalmia. Causal or likely causal pathogenic variants were demonstrated in ~60% (8 out of 14 patients) individuals. Seven out of 8 different identified mutations occurred in well-known microphthalmia/anophthalmia genes (OTX2, VSX2, MFRP, VSX1) or in genes associated with syndromes that include ocular defects (CHD7, COL4A1) (including two instances of CHD7 pathogenic variants). A single pathogenic variant was identified in PIEZO2, a gene that was not previously associated with isolated ocular defects. NGS efficiently identified the genetic etiology of microphthalmia/anophthalmia in ~60% of cases included in this cohort, the first from Mexican origin analyzed to date. The molecular defects identified through clinical exome sequencing in this study expands the phenotypic spectra of CHD7-associated disorders and implicate PIEZO2 as a candidate gene for major eye developmental defects.

[Increasing consumption of dietary fiber complementary to the treatment of metabolic syndrome]. / Incremento en el consumo de fibra dietética complementario al tratamiento del síndrome metabólico.

INTRODUCTION: the amount of fiber ingested in Latin American countries is lower (10-20 g/d) than recommended (35 g/d). An increase isrecommended for patients with metabolic syndrome (MS) to reduce cardiovascular risk, as well as to prevent obesity and other complications. OBJECTIVE: to evaluate whether increased dietary fiber consumption complements MS treatment and improves clinical and laboratory parameters in subjects at the San Martín Mexicapam "La Joya" Health Center, Oaxaca (Mexico). METHODS: an analytical-longitudinal study was carried out from January to April 2017, to evaluate nutritional status before and after intervention with dietary fiber and to measure cholesterol levels, triglycerides and fasting blood glucose. An increase of 15 g of fiber (fruits-vegetables and/or oat bran and/or wheat bran) was indicated in the usual diet over eight weeks. RESULTS: the sample consisted of 30 participants from the Mutual Aid Group diagnosed with MS, with an average age of 37.26 years, starting from a body mass index (BMI) of 30.75 kg/cm2 and levels of fasting glycemia at 153.87 mg/dl, triglycerides at 209.67 mg/dl, and cholesterol at 213.81 mg/dl. Following the intervention, a statistically significant difference (p < 0.05) was obtained with a BMI of 29.7 kg/cm2, fasting glycemia at 127.77 mg/dl, triglycerides at 179.71 mg/dl and cholesterol at 207.13 mg/dl. CONCLUSION: a reduction in the results for the parameters tested in patients of MS is improved by a greater consumption of dietary fiber, such as oat bran. However, additional studies are required to generate clearer recommendations.

Incremento en el consumo de fibra dietética complementario al tratamiento del síndrome metabólico / Increasing consumption of dietary fiber complementary to the treatment of metabolic síndrome

Introducción: la fibra ingerida por la población en Latinoamérica es inferior (10-20 g/d) a lo recomendado por la Organización Mundial de la Salud (OMS) (25-35 g/d). Su consumo se debe promover para pacientes con síndrome metabólico (SM), ya que reduce el riesgo cardiovascular y previene la obesidad y alteraciones asociadas. Objetivo: evaluar si el incremento del consumo de fibra dietética como coadyuvante para el tratamiento de SM en sujetos del Centro de Salud de San Martín Mexicapam "La Joya", Oaxaca (México), mejora los parámetros clínicos y laboratoriales de los mismos. Métodos: se trató de un estudio analítico-longitudinal llevado a cabo desde enero hasta abril de 2017, en el cual se evaluó el estado nutricional antes y después de la intervención con fibra dietética y se midieron los niveles de colesterol, triglicéridos y glucosa en sangre en ayuno. Se indicó un incremento de 15 g de fibra (frutas-verduras y/o salvado de avena y/o salvado de trigo) a la dieta habitual por un lapso continuo de ocho semanas. Resultados: la muestra fue de 30 participantes del Grupo de Ayuda Mutua diagnosticados con SM, cuya media de edad fue de 37,26 años y con un índice de masa corporal (IMC) al inicio de 30,75 kg/cm2, glucemia de ayuno de 153,87 mg/dl, triglicéridos de 209,67 mg/dl y colesterol de 213,81 mg/dl. Al finalizar la intervención se obtuvo una diferencia estadísticamente significativa (p < 0,05): IMC de 29,7 kg/cm2, glucemia de ayuno de 127,77 mg/dl, triglicéridos de 179,71 mg/dl y colesterol de 207,13 mg/dl. Conclusión: el incremento del consumo de fibra dietética (salvado de avena) funciona como complemento al tratamiento del SM para disminuir los parámetros clínicos y laboratoriales de los sujetos de estudio. Sin embargo, se requiere de más estudios para generar recomendaciones más claras

Introduction: the amount of fiber ingested in Latin American countries is lower (10-20 g/d) than recommended (35 g/d). An increase is recommended for patients with metabolic syndrome (MS) to reduce cardiovascular risk, as well as to prevent obesity and other complications. Objective: to evaluate whether increased dietary fiber consumption complements MS treatment and improves clinical and laboratory parameters in subjects at the San Martin Mexicapam "La Joya" Health Center, Oaxaca (Mexico). Methods: an analytical-longitudinal study was carried out from January to April 2017, to evaluate nutritional status before and after intervention with dietary fiber and to measure cholesterol levels, triglycerides and fasting blood glucose. An increase of 15 g of fiber (fruits-vegetables and/ or oat bran and/or wheat bran) was indicated in the usual diet over eight weeks. Results: the sample consisted of 30 participants from the Mutual Aid Group diagnosed with MS, with an average age of 37.26 years, starting from a body mass index (BMI) of 30.75 kg/cm2 and levels of fasting glycemia at 153.87 mg/dl, triglycerides at 209.67 mg/dl, and cholesterol at 213.81 mg/dl. Following the intervention, a statistically significant difference (p < 0.05) was obtained with a BMI of 29.7 kg/cm2, fasting glycemia at 127.77 mg/dl, triglycerides at 179.71 mg/dl and cholesterol at 207.13 mg/dl. Conclusion: a reduction in the results for the parameters tested in patients of MS is improved by a greater consumption of dietary fiber, such as oat bran. However, additional studies are required to generate clearer recommendations

Genes relacionados con microftalmia y anoftalmia hereditarias.

Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during embryonic stage. Their etiology is variable, although monogenic causes are of great importance as they have a high risk of familial recurrence. Included among the most severe congenital eye abnormalities are microphthalmia, defined by an abnormally small eye, and anophthalmia, characterized by congenital absence of ocular structures. The currrent knowledge of the genes involved in human microphthalmia and anophthalmia in humans is revised in this work.

Molecules in seminal plasma related to platelets in preeclampsia.

OBJECTIVE: Prostaglandins present in seminal fluid are actively involved in vascular and non-vascular smooth muscle maintenance, reproduction, and inflammatory processes. Seminal plasma contains molecules, such as oxylipins, which possess cell signaling functions. Several studies have shown that specific molecules in seminal fluid can increase passive diffusion, and cause interactions in the female reproductive tract. This may provoke a cascade of cellular and molecular changes in general health and certain diseases. This study examines the hypothesis that the molecules in seminal fluid are involved in platelet activity. The molecules diffuse through cells and membranes, affecting Hoxa 10, binding ganglioside pathways, and acting over platelet function. When these molecules are at low levels, they may trigger prothrombotic states, explaining the pathophysiology of haemostatic response, such as preeclampsia, and increased risk of cardiovascular disease.

[Not Available]. / Intervención nutricional en un Grupo de Ayuda Mutua del municipio de "El Rosario", Oaxaca de Juárez, México.

Introducción: los grupos de ayuda mutua se forman con la finalidad de atender a adultos mayores con problemas crónicos-degenerativos. La organización y participación activa de los integrantes favorece la intervención del nutriólogo y, por ende, cambios en el estilo de vida de los participantes, sobrellevando de mejor manera sus vidas. Objetivo: intervenir nutricionalmente en individuos del Grupo de Ayuda Mutua del Centro de Salud C-2, "El Rosario" de Oaxaca de Juárez, México. Material y métodos: se trató de un estudio observacional, descriptivo, analítico y longitudinal, llevado a cabo desde noviembre/2014 hasta julio/2015, evaluando el estado nutricional antes y después de la intervención, buscando la correlación entre índice de masa corporal (IMC), glucosa capilar, hemoglobina glicada con las consultas-talleres brindadas. Resultados: la muestra trabajada fue de 15 participantes del Grupo de Ayuda Mutua con un promedio de edad de 55,26 años, con un IMC de 28,74 kg/cm 2 , glucosa capilar de 218,66 mg/dl y una hemoglobina glicada de 10,43%. Al finalizar la intervención se correlacionaron entre sí mediante Spearman, dando como resultado el valor de 1, es decir, una correlación positiva perfecta. Conclusión: el nutriólogo juega hoy en día un papel importante en el hecho de atender enfermedades crónico-degenerativas, a través del seguimiento en consultas y talleres propuestos. Los grupos de ayuda mutua día a día se posicionan como una estrategia en la línea educativa para mejorar el control de las enfermedades.

Intervención nutricional en un Grupo de Ayuda Mutua del municipio de "El Rosario", Oaxaca de Juárez, México / Nutritional intervention in a Mutual Support Group of the municipality of "El Rosario" Oaxaca de Juarez, Mexico

Introducción: los grupos de ayuda mutua se forman con la finalidad de atender a adultos mayores con problemas crónicos-degenerativos. La organización y participación activa de los integrantes favorece la intervención del nutriólogo y, por ende, cambios en el estilo de vida de los participantes, sobrellevando de mejor manera sus vidas. Objetivo: intervenir nutricionalmente en individuos del Grupo de Ayuda Mutua del Centro de Salud C-2, "El Rosario" de Oaxaca de Juárez, México. Material y métodos: se trató de un estudio observacional, descriptivo, analítico y longitudinal, llevado a cabo desde noviembre/2014 hasta julio/2015, evaluando el estado nutricional antes y después de la intervención, buscando la correlación entre índice de masa corporal (IMC), glucosa capilar, hemoglobina glicada con las consultas-talleres brindadas. Resultados: la muestra trabajada fue de 15 participantes del Grupo de Ayuda Mutua con un promedio de edad de 55,26 años, con un IMC de 28,74 kg/cm2 , glucosa capilar de 218,66 mg/dl y una hemoglobina glicada de 10,43%. Al finalizar la intervención se correlacionaron entre sí mediante Spearman, dando como resultado el valor de 1, es decir, una correlación positiva perfecta. Conclusión: el nutriólogo juega hoy en día un papel importante en el hecho de atender enfermedades crónico-degenerativas, a través del seguimiento en consultas y talleres propuestos. Los grupos de ayuda mutua día a día se posicionan como una estrategia en la línea educativa para mejorar el control de las enfermedades (AU)

Introduction: Mutual support groups are formed in order to meet the necessities of elder people with chronic degenerative problems. This kind of participations favors the nutritionist’s intervention and, therefore, changes in lifestyle, coping with their chronic condition. Objective: Nutritional management in mutual support groups at Health Care Center C-2, "El Rosario" de Oxaca, Juarez (Mexico). Material and methods: This was an observational, descriptive, analytical and longitudinal study, conducted from November/2014 to July/2015, evaluating the nutritional status before and after the intervention, looking correlation between IMC, capillary glucose, glycated hemoglobin and consultation-workshops given. Results: The sample was constituted by 15 participants, 55.26 years of age as average, with a IMC of 28.74 kg/cm2 , capillary glucose 218.66 mg/dL, and a glycated hemoglobin of 10.43%. There was a positive correlation after the intervention (Spearman = 1), resulting value of 1, that is to say, a perfect positive correlation). Conclusion: Nutritionist today plays an important role in atending chronic degenerative diseases, through, the proposed follow-up consultations and workshops. The mutual support groups are well-positioned as every day as a strategy in the educative line to improve control of the disease (AU)

Reduction of Platelet Aggregation From Ingestion of Oleic and Linoleic Acids Found in Vitis vinifera and Arachis hypogaea Oils.

The purpose of this study was to evaluate the effect of the consumption of seed oils from Vitis vinifera and Arachis hypogaea in platelet aggregation. The initial hypothesis suggested that subjects who have consumed these seed oils undergo modified platelet aggregation. This study was performed using a pre-post test design, with a control group, and double blind. The effects of the consumption of grape seed and peanut oils were measured for platelet aggregation in clinical and laboratory tests in 30 healthy subjects. In addition to this group, a control group of 4 health subjects received no treatment with oils, just 500 mg oral administration acetylsalicylic acid for 7 days. Platelet aggregation was assessed by the Born turbidimetric method, using 3 different concentrations of adenosine diphosphate as agonists (2, 54; 1, 17; and 0, 58 µM). The study subjects had very similar results; both oils were shown to have a significant reduction in platelet aggregation. Grape seed oil showed a decrease of 8.4 ± 1% in aggregation, compared with peanut oil, which decreased aggregation by 10.4 ± 1%. The control group, taking 500 mg OD aspirin for 7 days, showed a significant decrease in platelet aggregation, similar to that of oil ingestion. Each of the oils was analyzed for fatty acids, to determine which particular acids were presents in greater levels, which could explain the reduction in platelet aggregation. The oil found to be most abundant in grape seeds was linoleic acid (omega-6), and in peanuts, it was oleic acid (omega-9). However, in fact, both acids reduced platelet aggregation. Consumption of plant oils from grape seeds and peanuts had a lowering effect on platelet aggregation, in addition to containing a high content of unsaturated fatty acids. However, omega-3, omega-6, and omega-9 fatty acids were not specifically responsible for the reductions mentioned above.

Características antropométricas y hábitos dietéticos en niños de etapa escolar del centro de salud con servicios ampliados de Tlalixtac de Cabrera, Oaxaca, México / Anthropometric characteristics and dietary habits in school children stage health center with expanded services of Tlalixtac de Cabrera, Oaxaca, México

Objetivo: El artículo analiza las características antropométricas y los hábitos de alimentación en niños de etapa escolar del Centro de Salud con Servicios Ampliados (CESSA) de Tlalixtac de Cabrera, Oaxaca (México). Métodos: Se trata de un estudio de cohorte, con una muestra de 74 escolares en la cual se analizan sus características antropométricas así como sus hábitos dietéticos. Este estudio se realizó en niños de 6 a 12 años de edad asignados al Centro de Salud con Servicios Ampliados (CESSA) del municipio de Tlalixtac de Cabrera en Oaxaca, México. En ellos se determinó el peso, edad, estatura y sexo todo ello previa firma del consentimiento informado dado a los padres o tutores de los niños a los cuales se les aplicó la historia clí- nico-nutricional correspondiente para cada uno de los niños. El análisis de los datos se realizó a través de la base de datos generadas en Excel® y con la medida estadística de razón de momios. Resultados: Se encontró que la población estudiada presentó una prevalencia de normopeso (49%), seguido por sobrepeso u obesidad (44%) y bajo peso (7%). En base a la frecuencia de alimentos obtenidos, se determinó a través de la razón de momios que los niños consumen excesivamente cereales con grasa, cereales sin grasa y de sacarosa, estos resultados indican que estos grupos de alimentos pueden generar un incremento de peso corporal en dicha población y esto conllevaría al desarrollo de problemas crónicos-degenerativos Conclusión: En la población escolar estudiada, existe un incremento de peso debido al consumo elevado de hidratos de carbono, así como un deficiente consumo de frutas y verduras, siendo este uno de los factores principales para el probable desarrollo de sobrepeso y obesidad en un futuro aunado a la nula actividad física en la población. El bajo consumo de alimentos saludables puede ser atribuible a un bajo nivel socioeconómico, por lo que es de gran importancia la implementación de los huertos de traspatio, además de la inclusión de actividades físicas no sólo en niños sino también en la población adulta de la comunidad (AU)

Objective: The following project analyzes the anthropometric characteristics in children of school age Health Center with Expanded Services (CESSA) Tlalixtac of Cabrera, Oaxaca (Mexico). Methods: This is a cohort study with a sample of 74 schools in which anthropometric characteristics and their dietary habits are analyzed. This study was conducted in children 6- 12 years of age assigned to the Health Center with Expanded Services (CESSA) Tlalixtac of Cabrera, Oaxaca (Mexico). In them is determined the weight, age, height and sex with consent informed parent or guardians of children to which we applied the clinical-nutritional history for each child. The data analysis was performed using the database generated in Excel® and statistical measure of odds ratios. Results: We found that the population studied (74 schools) had a prevalence of normal weight (49%), followed by overweight or obese (44%) and weight low (7%). In based on food frequency obtained, it is determined by the odds ratios that children than consume excessively cereals fatty, cereals nonfat and sucrose, these results indicate that these food groups may cause an increase in body weight in this population and this would lead to development of chronic degenerative problems. Conclusion: In the school population studied, there is an increase in weight due to the high consumption of carbohydrates and poor consumption of fruits and vegetables, being one of the factors for the development of overweight and obesity in the future, coupled to no physical activity in the population. The low consumption of healthy foods may be attributable to a low socioeconomic status, so it is of great importance to the implementation of backyard gardens, and the inclusion of physical activity not only in children but also in the adult population of the community (AU)

[A GENETIC VIEW OF FAMILIAL HYPERCHOLESTEROLEMIA]. / UNA VISIÓN GENÉTICA DE LA HIPERCOLESTEROLEMIA FAMILIAR.

OBJECTIVE: to show reviewed information of published studies relating to Familial Hypercholesterolemia (FH), nutrition, and genes involved in the development of this pathology. RESULTS: an analysis showing familial hypercholesterolemia as a disorder occuring due to mutations in gene encoding of the LDL receptor, which can be transmitted as an autosomal dominant or autosomal recessive. It's diagnosis is important for those with a greater likelihood of premature coronary disease, and can significantly reduce life expectancy. CONCLUSIONS: there are no specific clinical criteria with absolute predictive value for the diagnosis of HF, Genetic diagnosis can prove functional defects in the LDL receptor gene, constituting definitive confirmation of the diagnosis, thus the importance of presenting a genetic vision of development of this disease, which can be treated adequately through diet therapy affecting future generations in the family concerned.

Objetivo: mostrar información revisada de manera sistemática de estudios publicados relacionados con la hipercolesterolemia familiar (HF), la nutrición y los genes que intervienen en el desarrollo de esta patología. Resultados: el análisis de los resultados de investigación consultados pone de manifiesto que la hipercolesterolemia familiar es un trastorno que se produce debido a mutaciones en genes que codifican el receptor de LDL, que se puede transmitir de forma autosómica dominante o bien autosómica recesiva. La importancia de su diagnóstico radica en que las personas afectas presentan una elevada frecuencia de enfermedad coronaria prematura, reduciéndose de forma importante su expectativa de vida. Conclusiones: no existen criterios clínicos específicos con un valor predictivo absoluto para el diagnóstico de HF; el diagnóstico genético permite demostrar defectos funcionales en el gen del receptor LDL, constituyendo la confirmación definitiva del diagnóstico, de ahí la importancia de presentar una visión genética del desarrollo de esta patología, que puede ser tratada para generaciones futuras de manera adecuada a través de la dietoterapia en la familia afectada.