Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging.

Coenzyme Q10 (CoQ10 ) deficiency is a rare disease characterized by a decreased accumulation of CoQ10 in cell membranes. Considering that CoQ10 synthesis and most of its functions are carried out in mitochondria, CoQ10 deficiency cases are usually considered a mitochondrial disease. A relevant feature of CoQ10 deficiency is that it is the only mitochondrial disease with a successful therapy available, the CoQ10 supplementation. Defects in components of the synthesis machinery caused by mutations in COQ genes generate the primary deficiency of CoQ10 . Mutations in genes that are not directly related to the synthesis machinery cause secondary deficiency. Cases of CoQ10 deficiency without genetic origin are also considered a secondary deficiency. Both types of deficiency can lead to similar clinical manifestations, but the knowledge about primary deficiency is deeper than secondary. However, secondary deficiency cases may be underestimated since many of their clinical manifestations are shared with other pathologies. This review shows the current state of secondary CoQ10 deficiency, which could be even more relevant than primary deficiency for clinical activity. The analysis covers the fundamental features of CoQ10 deficiency, which are necessary to understand the biological and clinical differences between primary and secondary CoQ10 deficiencies. Further, a more in-depth analysis of CoQ10 secondary deficiency was undertaken to consider its origins, introduce a new way of classification, and include aging as a form of secondary deficiency.

Anthropometric characteristics and somatotype profile in amateur rugby players / Características antropométricas y somatotipo en jugadores amateur de rugby

INTRODUCTION: It has been proposed that body composition plays an essential role in sport performance. However, there are few studies that have analyzed body composition in amateur rugby players. OBJECTIVE: The purpose of the present study was to examine the anthropometric characteristics, somatotype profile, fat and muscle components in rugby players from an amateur Spanish team. MATERIAL AND METHOD: Height, body mass, diameters, perimeters and skinfolds from thirty-one rugby players were measured. Fat and muscle components and somatotype profile were determined. Proportionality was determined with the z-phantom strategy. Descriptive statics (mean ± SD) and t-student were used. RESULTS: Mean body mass was 85.32 ± 14.36 kg, mean fat mass percentage was 12.35 ± 3.46%, mean muscle mass percentage was 50.29 ± 7.74% and mean somatotype was 4.50-5.80-0.95. The sum of six skinfolds was 92.92 ± 32.95 mm. Significant diffe-rences were observed between forwards and backs in body mass (95.24 vs 77.15 kg; p < 0.001), in sum of six skinfolds (107.67 vs 80.77 mm; p = 0.021), in body fat percentage (13.90 vs 11.07%; p = 0.021), in muscle mass percentage (45.16 vs 54.54%; p=<0.001) in endomorphy (5.31 vs 3.76; p = 0.013) and in ectomorphy (0.62 vs 1.33; p = 0.002). Regarding proportionality, differences were found in function on the position in on the field. CONCLUSION: Anthropometrical measures would be an adequate instrument to evaluate body composition in rugby. Anthro-pometric profile in rugby could be related to the specific position the field, although further studies would be necessary to confirm this idea. The level of professionalism could affect to the anthropometrics characteristics in rugby players

INTRODUCCIÓN: Se ha propuesto que la composición corporal juega un papel esencial en el rendimiento deportivo. Sin embargo, hay pocos estudios que hayan analizado la composición corporal en jugadores amateurs de rugby. OBJETIVO: El objetivo del presente estudio fue examinar las características antropométricas, el somatotipo, el compartimento muscular y de grasa en jugadores amateurs de rugby de nacionalidad española. MATERIAL Y MÉTODO: Se midió la altura, el peso, los diámetros, los perímetros y los pliegues corporales de treinta y un juga-dores. Se analizó los componentes de grasa y músculo y el somatotipo. Se determinó la proporcionalidad con el z-phantom. Se utilizaron métodos estadísticos descriptivos (mean ± SD) y t-student. RESULTADOS: El peso medio fue 85,32 ± 14,36 kg, el porcentaje de grasa medio fue 12,35 ± 3,46%, el porcentaje medio de masa muscular fue 50,29 ± 7,74% y el somatotipo medio fue 4,50-5,80-0,95. La suma de los seis pliegues corporales fue 92,92 ± 32,95 mm. Se observaron diferencias entre jugadores de ataque y defensa en el peso (95,24 vs 77,15 kg; p < 0,001), en la suma de los seis pliegues corporales (107,67 vs 80,77 mm; p = 0,021), en el porcentaje de grasa corporal (13,90 vs 11,07%; p = 0,021), en el porcentaje de masa muscular (45,16 vs 54,54%; p = < 0,001) en la endomorfia (5,31 vs 3,76; p = 0,013) y en la ectomorfia (0,62 vs 1,33; p = 0,002). En cuanto a la proporcionalidad, se observaron diferencias en función de la posición de los jugadores en el campo. CONCLUSIÓN: Las medidas antropométricas serían un adecuado instrumento para evaluar la composición corporal en rugby. El perfil antropométrico en rugby podría estar relacionado con la posición ocupada en el campo de juego, aunque serían necesario más estudios para confirmar esta idea. El nivel de profesionalismo podría afectar a las características antropométricas de los jugadores de rugby

Previous intakes to a competitive match in young soccer players / Ingestas previas a un partido oficial en jugadores de fútbol jóvenes

INTRODUCTION: It has been shown that nutrition plays a crucial role in sport performance, consequently athletes should pay attention to their nutritional habits. However, it is not completely clear what athletes eat just before the sport competition. OBJECTIVES: Analyze the previous energy and nutrient ingestions to a match in soccer players. MATERIAL AND METHOD: Previous intakes from forty-seven players were collected using a 24 hours recall questionnaire. Twenty-four and three hours intakes before the competition were examined using a nutrient ́s composition software. Brand names of commercial food were included. Information concerning time of day, cooking methods and amount of food prepared were collected. Height and weight were measured. Players were asked if they have received nutritional directions in previous seasons. Descriptive statics (mean ± SD) and t-student analyses were used. RESULTS: The mean kcal ingestion was 34.68 ± 16.31 kcal/kg body weight twenty-four hours and 6.89 ± 3.38 kcal/kg body weight three hours before. Carbohydrate average intake was 3.35 ± 1.59 grams/kg body weight twenty-four hours and 0.87 ± 0.43 grams/kg body weight three hours before the match. Proteins mean consumption was 1.49 ± 0.76 grams/kg body weight twenty-four hours and 0.23 ± 0.16 grams/kg body weight three hours before the match. Differences were obtained between players who received nutritional direction and the other players in energy, carbohydrate, proteins and lipids ingested. CONCLUSION: The players studied presented a low kcal and carbohydrate ingestion twenty-four and three hours before a competitive match and they did not fulfill nutritional recommendation. However, nutritional directions could improve pre-vious energy and nutrients intakes

INTRODUCCIÓN: Se ha demostrado que la nutrición juega un papel crucial en el rendimiento deportivo, por ello los deportistas deberían de prestar atención a sus hábitos nutricionales. Sin embargo, no está completamente claro qué es lo que toman los deportistas justamente antes de la competición. OBJETIVOS: Analizar las ingestas previas de energía y nutrientes antes de un partido en jugadores de fútbol. MATERIALES Y MÉTODOS: Se recogieron las ingestas previas de cuarenta y siete jugadores de fútbol usando un cuestionario de 24 horas. Se analizó la ingesta de energía y nutrientes 24 y 3 horas antes del partido utilizando un software de composición nutricional. Se incluyó nombres de marcas comerciales. Se recogió información sobre el horario, los métodos de cocinado y la cantidad de comida preparada. Se midió la altura y el peso de cada jugador. Se les preguntó a los jugadores si habían recibido recomendaciones nutricionales en temporadas anteriores. Se utilizaron métodos estadísticos descriptivos y análisis t-student RESULTADOS: La ingesta calórica media fue de 34,68 ± 16,31 kcal/kg de peso veinticuatro horas antes y 6,89 ± 3,38 kcal/kg peso en las tres horas previas. El consumo medio de carbohidratos fue 3,35 ± 1,59 gramos/kg en las 24 horas y de 0,87 ± 0,43 gramos/kg en las tres horas previas. El consumo de proteínas fue de 1,49 ± 0,76 gramos/kg de peso en el día previo y de 0,23 ± 0,16 gramos/kg en las tres horas anteriores al partido. Se obtuvieron diferencias entre los jugadores que recibieron recomendaciones nutricionales y los que no en las ingestas de energía, carbohidratos, proteínas y lípidos. CONCLUSIÓN: Los jugadores estudiados presentaron una baja ingesta de kcal y carbohidratos en las veinticuatro y en las tres horas anteriores al partido y no cumpliendo con las recomendaciones alimentarias. Sin embargo, recomendaciones nutricionales podrían mejorar la ingesta de energía y nutrientes

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes mitochondrial myopathy leading to decreased physical performance. Here, we report that haploinsufficiency of ADCK2, a member of the aarF domain-containing mitochondrial protein kinase family, in human is associated with liver dysfunction and severe mitochondrial myopathy with lipid droplets in skeletal muscle. In order to better understand the etiology of this rare disorder, we generated a heterozygous Adck2 knockout mouse model to perform in vivo and cellular studies using integrated analysis of physiological and omics data (transcriptomics-metabolomics). The data showed that Adck2+/- mice exhibited impaired fatty acid oxidation, liver dysfunction, and mitochondrial myopathy in skeletal muscle resulting in lower physical performance. Significant decrease in Coenzyme Q (CoQ) biosynthesis was observed and supplementation with CoQ partially rescued the phenotype both in the human subject and mouse model. These results indicate that ADCK2 is involved in organismal fatty acid metabolism and in CoQ biosynthesis in skeletal muscle. We propose that patients with isolated myopathies and myopathies involving lipid accumulation be tested for possible ADCK2 defect as they are likely to be responsive to CoQ supplementation.

Coenzyme Q10 Supplementation in Aging and Disease.

Coenzyme Q (CoQ) is an essential component of the mitochondrial electron transport chain and an antioxidant in plasma membranes and lipoproteins. It is endogenously produced in all cells by a highly regulated pathway that involves a mitochondrial multiprotein complex. Defects in either the structural and/or regulatory components of CoQ complex or in non-CoQ biosynthetic mitochondrial proteins can result in a decrease in CoQ concentration and/or an increase in oxidative stress. Besides CoQ10 deficiency syndrome and aging, there are chronic diseases in which lower levels of CoQ10 are detected in tissues and organs providing the hypothesis that CoQ10 supplementation could alleviate aging symptoms and/or retard the onset of these diseases. Here, we review the current knowledge of CoQ10 biosynthesis and primary CoQ10 deficiency syndrome, and have collected published results from clinical trials based on CoQ10 supplementation. There is evidence that supplementation positively affects mitochondrial deficiency syndrome and the symptoms of aging based mainly on improvements in bioenergetics. Cardiovascular disease and inflammation are alleviated by the antioxidant effect of CoQ10. There is a need for further studies and clinical trials involving a greater number of participants undergoing longer treatments in order to assess the benefits of CoQ10 treatment in metabolic syndrome and diabetes, neurodegenerative disorders, kidney diseases, and human fertility.