Cómo puede afectar el componente genético la lesionabilidad de los deportistas

El mundo del deporte y de la alta competición comporta un considerable riesgo de sufrir lesiones por su nivel de exigencia. Los programas de prevención son el principal objetivo a desarrollar y profundizar para minimizar el efecto de los factores de riesgo y evitar una elevada incidencia de lesiones y/o intentar disminuir la severidad de las mismas. El origen multifactorial de las lesiones complica la identificación de factores de riesgo, y es la suma de dichos factores y su interacción la que predispone al deportista a sufrir lesiones y a que se produzcan de una manera determinada. En los últimos años ha empezado a aflorar la importancia del componente genético de cada individuo como posible causa de predisposición lesional. En este trabajo se hace una revisión de los estudios genéticos realizados hasta la actualidad en relación a las lesiones del tejido conectivo y se proponen líneas futuras de investigación que permitirían desarrollar programas de entrenamiento más personalizados y especificar terapias preventivas a fin de reducir el riesgo lesional

mRNA expression of myosin heavy chain isoforms in the sphenomandibularis portion of the temporalis muscle

The main objective of this study was to analyze by real-time quantitative polymerase chain reaction (RT-qPCR) the expression patterns of the myosin heavy chain (MHC) isoforms (MHC-I, MHC-IIa, MHC-IIx) in the sphenomandibularis portion of the temporalis muscle. We expected to find differences between the sphenomandibularis and the other portions of the temporalis that could be related to the functional characteristics of the sphenomandibularis identified by electromyography. We dissected the right temporalis muscle of ten adult human individuals (five men and five women). Samples of the anterior and posterior temporalis and of the sphenomandibularis portion were obtained from each dissected muscle. These samples were analyzed by RT-qPCR to determine the percentages of expression of the MHC-I, MHC-IIa and MHC-IIx isoforms. No significant differences were identified between the anterior and the posterior temporalis in the expression patterns of the MHC-I, MHC-IIa and MHC-IIx isoforms. However, there were significant differences between the sphenomandibularis and the anterior temporalis. Specifically, the sphenomandibularis portion had a higher percentage of expression of the MHC-I isoform (P=0.04) and a lower percentage of expression of the MHC-IIx isoform (P=0.003). The pattern of expression that we observed in the sphenomandibularis reflects a greater resistance to fatigue, a lower contraction speed, and a lower capacity of force generation in the sphenomandibularis compared to the anterior temporalis. These characteristics are consistent with electromyographic findings on the functional differences between these two portions

Lestaurtinib Inhibition of the JAK/STAT Signaling Pathway in Hodgkin Lymphoma Inhibits Proliferation and Induces Apoptosis

Standard cytotoxic chemotherapy for Hodgkin Lymphoma (HL) has changed little in 30 years; the treatment for patients with relapsed or refractory disease remains challenging and novel agents are under development. JAK/STAT constitutive activation plays an important role in the pathogenesis of HL. Lestaurtinib is an orally bioavailable multikinase inhibitor that has recently been shown to inhibit JAK2 in myeloproliferative disorders. The potential role of Lestaurtinib in HL therapy is unknown. We have analyzed the effect of Lestaurtinib treatment in five HL cell lines from refractory patients, L-428, L-1236, L-540, HDML-2 and HD-MY-Z. At 48 h, a dose-dependent cell growth inhibition (23%–66% at 300 nM) and apoptotic increment (10%–64% at 300 nM) were observed. Moreover, Lestaurtinib inhibited JAK2, STAT5 and STAT3 phosphorylation and reduced the mRNA expression of its downstream antiapoptotic target Bcl-xL. In addition, we have analyzed the effect of Lestaurtinib treatment in lymph nodes from four classic HL patients. We observed a decrease in cell viability at 24 hours of treatment in three patients (mean decrease of 27% at 300 nM). Our findings provide, for the first time, a molecular rationale for testing JAK2 inhibitors, specifically Lestaurtinib, in HL patients

Expression of MyHC isoforms mRNA transcripts in different regions of the masseter and medial pterygoid muscles in chimpanzees

Objective The aim of this study is to examine the expression pattern of the different myosin heavy chain (MyHC) isoforms in the masseter and medial pterygoid muscles by real time quantitative polymerase chain reaction (RT-qPCR) to obtain information at molecular level which can be related to the functional characteristics of these two muscles. Design The masseter, deep and superficial portion, and medial pterygoid muscles of five adult Pan troglodytes were dissected in order to obtain samples of the anterior and posterior regions of each portion of the masseter and of the medial pterygoid. The expression of MyHC isoforms mRNA transcripts was analyzed by RT-qPCR. Results No significant differences in expression of MyHC isoforms between the masseter and the medial pterygoid were found. In contrast, when comparing the superficial and the deep portion of the masseter, we found that the MyHC-IIM isoform was expressed at a significantly higher level in the superficial portion. Conclusions The superficial portion of the masseter and the medial pterygoid muscle have the same expression pattern regarding the different MyHC isoforms. On the other hand, the deep portion of the masseter, which is activated mainly during lateral and repositioning movements of the mandible, has a lower MyHC-IIM isoform expression than the superficial portion. Our findings provide new data on functional aspects of the masseter and medial pterygoid that can complement results obtained by other techniques

Expression of myosin heavy chain isoforms mRNA transcripts in the temporalis muscle of common chimpanzees (Pan troglodytes)

Purpose The common chimpanzee (Pan troglodytes) is the primate that is phylogenetically most closely related to humans (Homo sapiens). In order to shed light on the anatomy and function of the temporalis muscle in the chimpanzee, we have analyzed the expression patterns of the mRNA transcripts of the myosin heavy chain (MyHC) isoforms in different parts of the muscle. Basic procedures We dissected the superficial, deep and sphenomandibularis portions of the temporalis muscle in five adult P. troglodytes and quantified the expression of the mRNA transcripts of the MyHC isoforms in each portion using real-time quantitative polymerase chain reaction. Main findings We observed significant differences in the patterns of expression of the mRNA transcripts of the MyHC-IIM isoform between the sphenomandibularis portion and the anterior superficial temporalis (33.6% vs 47.0%; P = 0.032) and between the sphenomandibularis portion and the anterior deep temporalis (33.6% vs 43.0; P = 0.016). We also observed non-significant differences between the patterns of expression in the anterior and posterior superficial temporalis. Principal conclusions The differential expression patterns of the mRNA transcripts of the MyHC isoforms in the temporalis muscle in P. troglodytes may be related to the functional differences that have been observed in electromyographic studies in other species of primates. Our findings can be applicable to the fields of comparative anatomy, evolutionary anatomy, and anthropology

Tendinopatía rotuliana. Modelo de actuación terapéutico en el deporte. Patellar tendinopathy. Therapetic model in the sport

El dolor tendinoso, conocido como tendinopatía, es muy común en individuos físicamente activos, ya sea a nivel competitivo como recreacional. Sin embargo, se ha demostrado que individuos físicamente inactivos también lo sufren. Por lo tanto, se puede afirmar que la actividad física no se puede asociar directamente a la histopatología, y que el ejercicio físico puede ser más importante en la provocación de los síntomas que en ser el causante de la lesión1 and 2. La sobreutilización induce esta condición, pero la etiología y la patogenia no están científicamente clarificadas..

Quantification of Myosin Heavy Chain Isoform mRNA Transcripts in the Supraspinatus Muscle of Vertical Clinger Primates

Vertical clinging is a specialized form of locomotion characteristic of the primate family Callitrichidae. Vertical clinging requires these pronograde primates to maintain a vertical posture, so the protraction of their forelimbs must resist gravity. Since pronograde primates usually move as horizontal quadrupeds, we hypothesized that the supraspinatus muscle of vertical clingers would present specific characteristics related to the functional requirements imposed on the shoulder area by vertical clinging. To test this hypothesis, we quantified by real-time quantitative polymerase chain reaction the mRNA transcripts of myosin heavy chain (MHC) isoforms in the supraspinatus muscle of 15 species of pronograde primates, including vertical clingers. Our results indicate that the supraspinatus of vertical clingers has a specific expression pattern of the MHC isoforms, with a low expression of the transcripts of the slow MHC-I isoform and a high expression of the transcripts of the fast MHC-II isoforms. We conclude that these differences can be related to the particular functional characteristics of the shoulder in vertical clingers, but also to other anatomical adaptations of these primates, such as their small body size

Could single nucleotide polymorphisms influence on the efficacy of platelet-rich plasma in the treatment of sport injuries?

Platelet-rich plasma (PRP) is a new powerful biological tool in sports medicine, when used to treat tendon, ligament and muscle injuries. PRP is a fraction of autologous whole blood containing an increased number of platelets and a wide variety of cytokines that can improve and accelerate the healing of various tissues. An analysis of the literature shows promising preclinical results for PRP treatment, but there is a lack of solid clinical proof to support its use in sports medicine, and in fact, clinical findings on individual responses to PRP treatment are contradictory. These contradictions may be due to interindividual differences in the presence of single nucleotide polymorphisms (SNPs) in genes related to PRPs and/or their receptors. These SNPs can determine a greater or lesser response to this treatment and consequently a shorter or longer recovery time. We have focused our attention in the study of genes related to PRP with the aim to develope a genetic profile that will identify the individuals and injuries most likely to benefit from PRP treatmen

Estudi del gen sonic HEDGEHOG (Shh) i dels gens de la família CEACAM durant l'embriogènesi del còlon humà i la seva implicació en el desenvolupament del càncer colorectal

[cat] En aquest treball hem estudiat marcadors relacionats amb el desenvolupament embrionari del colon humà com són "Sonic hedgehog" i els membres de la família CEACAM comparant els seus nivells d'expressió en mostres de colon humà embrionari, teixit tumoral i teixit normal del propi pacient de pacients diagnosticats de càncer colorectal. "Sonic hedgehog" (Shh) és un morfogen que s'expressa durant les etapes inicials de l'embriogènesi. Te un paper important en les primeres fases de l'organogènesi de cervell, pulmó, pàncrees i de l'aparell gastrointestinal. Shh també presenta expressió en molts tumors d'origen endodèrmic, però el seu paper en el desenvolupament del càncer colorectal no estava encara estudiat. En el present treball hem realitzat un anàlisi morfològic de colons embrionaris , detecció per inmunohistoquímica i RT-qPCR per examinar l'expressió de Shh en colons d'entre 7 i 11 setmanes de desenvolupament així com també en teixit tumoral i normal del mateix pacient, de 63 pacients diagnosticats de càncer colorectal. Els nostres resultats ens indiquen que l'expressió de Shh comença durant la setmana 7 de desenvolupament embrionari i es detecta a la zona de l'endoderma intestinal adjacent al mesènquima. Els nivells més elevats d'expressió de mRNA Shh es detecten a la setmana 9 de desenvolupament i mitjançant inmunohistoquímica, localitzem aquesta expressió tant a epiteli intestinal com a la zona del mesènquima. Nivells baixos es detecten durant la setmana 11 de desenvolupament i, mitjançant inmunohistoquímica, aquesta expressió es detecta de manera lleu a la base de les criptes i en teixit muscular. En colon humà embrionari, l'expressió de Shh és elevada en el moment de l'organització de l'endoderma embrionari (setmana 9) i l'expressió de Shh és baixa en el moment de la diferenciació del teixit del colon (setmana 11). Mitjançant RT-qPCR veiem que els nivells de mRNA Shh en teixit tumoral són molt més elevats que els obtinguts en el cas del teixit normal (p=0.00001). Elevats nivells d'expressió s'associen amb estadis inicials (I-II) del desenvolupament d'un càncer colorectal (p=0.02). Shh pot tenir un paper important tant en l'organització embrionària del colon humà com en les primeres etapes del desenvolupament d'un càncer colorectal. Els membres de la família CEACAM (CEACAM1, CEACAM3, CEACAM4, CEACAM5, CEACAM67 i CEACAM8) són proteïnes de membrana que participen en processos d'immunitat i adhesió.Mitjançant RT-qPCR detectem expressió de CEACAM1, CEACAM5, CEACAM6 i CEACAM7 en embrions d'entre 7 i 11 setmanes de desenvolupament. Els nivells de CEACAM6 van augmentant progressivament a mida que augmenta l'edat de l'embrió; és a dir, els seus nivells augmenten a mida que va augmentant el grau de diferenciació cel·lular de les cèl·lules que formen el colon humà embrionari. En el cas de l'anàlisi d'expressió de CEACAM5 observem que existeixen diferencies significatives entre els nivells d'expressió en teixit tumoral respecte al teixit normal (p=0.00008) i valors significatius respecte al temps a la progressió (p=0.001) i supervivència (p=0.006).[eng] We have studied some markers related with colon development in human embryos, Shh and CEA family members, to compare their mRNA expression levels in human embryonary colon samples with adult tumor and matched normal tissue from patients affected by colorectal cancer. Sonic hedgehog (Shh) is a morphogene expressed during the early phases of embryogenesis and in the foregut development. It plays an important role in the organogenesis of the brain, lung, pancreas and gastrointestinal system. Shh is also expressed in several tumors of endodermic origin. In the present study, we used morphological analysis, real-time quantitative PCR, and immunohistochemical staining to examine Shh expression in the colon of human embryos of 7 to 11 weeks. Our results show that Shh begins to be expressed in the human colon at 7 weeks, when it is found only in the cells of the endodermal epithelium. The highest levels of Shh expression are observed at 9 weeks, in the endodermal epithelium and in the mesenchyme. At 11 weeks, the colon is morphologically differentiated, and only low levels of Shh expression are detected at the base of the colon crypts. We conclude that in the human embryonic colon, Shh is upregulated at the time of the greatest structural organization and downregulated when the colon has acquired greater morphological differentiation. We used real-time quantitative PCR to assess Shh mRNA expression levels in tumor and matched normal tissue from 57 colorectal cancer patients and correlated the results with patient clinicopathological characteristics. Shh expression levels were higher in tumor tissue than in normal tissue from the same patient (P=0.00001). Higher levels of Shh expression were associated with early stage disease (P=0.02). Shh overexpression may influence the development of colorectal cancer. CEA family members are membrane proteins involved in immunity and adhesion. Using RT-qPCR we have detected expression of CEACAM1, CEACAM5, CEACAM6, CEACAM7 in colon of human embryos between 7-11 weeks of development. mRNA CEACAM6 level increases progressively with embryonic age. CEACAM5 analysis show that high mRNA levels in tumor tissues compared with levels in normal tissues of the same patient are related with a low progression of the tumor and a higher survival