Aerobic performance in brothers, dizygotic and monozygotic twins

Forty-two brothers, 66 dizygotic twins of both sexes and 106 monozygotic twins of both sexes, 16 to 34 yr of age, took part in this study that was designed to investigate the effect of heredity in aerobic performance. Maximal oxygen uptake (VO2 max), maximal heart rate (HR max), maximal ventilation, and maximal oxygen pulse were obtained from a progressive ergocycle test to exhaustion. Total work output in a 90-min maximal ergocycle test was also determined in the twins. Fat-free weight was estimated from body density measurements obtained through underwater weighing. Aerobic performance scores were adjusted for age (brothers), and age and sex (dizygotic and monozygotic twins) by regression procedures. Dizygotic twins and brothers of same sibship exhibited about the same level of resemblance for all variables or were only slightly different, with the exception of HR max. Monozygotic pairs were generally more alike than the other sibs, as suggested by the intra-class coefficients. Twin data were used to compute the genetic effects. The within-pair estimate of genetic variance revealed that it was significant (P less than or equal to 0.05) for all variables except VO2 max X kg-1 fat-free weight X min-1. In the case of HR max, the among-pairs component estimate had to be used, and it also proved significant (P less than or equal to 0.01). The size of the genetic effect was computed from three different methods, and it reached about 40% for VO2 max X kg-1 X min-1, 50% for HR max, 60% for maximal oxygen pulse and maximal ventilation, and 70% for 90-min work output X kg-1.(ABSTRACT TRUNCATED AT 250 WORDS)     

Heredity and muscle adaptation to endurance training

To determine whether sensitivity of muscle characteristics and aerobic performances to endurance training was genotype-dependent, 6 pairs of monozygotic (MZ) twins, 21 +/- 4 yr of age (mean +/- SD), took part in a 15-wk ergocycle endurance training program. Tests were performed before and after 7 and 15 weeks of training. A biopsy of the vastus lateralis muscle was obtained for the determination of fiber type composition and activities of creatine kinase, hexokinase, phosphofructokinase, lactate dehydrogenase, malate dehydrogenase, 3-hydroxyacyl CoA dehydrogenase, and oxoglutarate dehydrogenase. Maximal oxygen uptake was measured with a progressive maximal ergocycle test, while endurance performance was determined as the total work output during a 90-min maximal ergocycle test. Results indicated that maximal oxygen uptake X kg-1 and endurance performance X kg-1 increased significantly (14 and 31%, respectively) with training, and intra-pair resemblance (intra-class) in response to 15 wk of training ranged from 0.65 to 0.83. Hexokinase (31%), phosphofructokinase (37%), lactate dehydrogenase (21%), malate dehydrogenase (31%), and 3-hydroxyacyl CoA dehydrogenase (60%) were significantly increased with training whereas no mean change in fiber-type proportions, oxoglutarate dehydrogenase and creatine kinase activities and the phosphofructokinase/oxoglutarate dehydrogenase ratio was observed. Similarity within twin pairs in the response to enzyme activities was mainly detected in the second half of the training program. The present results confirm, therefore, that both maximal oxygen uptake and endurance performance responses to training are largely genotype-dependent.(ABSTRACT TRUNCATED AT 250 WORDS)     

X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis

An unusual family is described with a congenital bleeding disorder present in four males belonging to three generations. Of the three surviving affected males, all had splenomegaly and petechiae. The three had moderate thrombocytopenia (55-90 X 10(9)/liter) and markedly prolonged Ivy-template bleeding times (greater than 30 min). They were also noted to have reticulocytosis and, upon further investigation, imbalanced globin chain synthesis resembling that of beta-thalassemia minor. Studies on nine additional family members in four generations were normal except for slight elevations of reticulocyte counts in female members, one of whom had the abnormal globin chain synthesis ratio. In male members, the bleeding tendency and clinical signs always occurred in the presence of the globin chain synthesis defect and reticulocytosis. This previously undescribed condition was apparently transmitted as an X-linked disorder.     

Chemokine expression and leucocyte infiltration in Sjogren's syndrome

OBJECTIVE: To investigate the expression and source of chemokines in minor salivary gland biopsies (MSGs) in patients with Sjogren's syndrome (SS). METHODS: Immunohistochemical analysis was used to determine the pattern of chemokine expression in MSGs from patients with (n=6) and without (n=5) SS, as well as to examine the phenotype of both resident and infiltrating cells expressing chemokines. RESULTS: Significant differences in the number of infiltrating mononuclear (MN) cells in patients with and without SS were noted. Ductal epithelial cells of SS biopsies expressed significantly increased levels of macrophage inflammatory protein (MIP)-1alpha, MIP-1beta, interleukin-8 (IL-8) and RANTES (Regulated upon Activation, Normal T cell Expressed and Secreted). Biopsies from patients with SS showed that MIP-1beta was expressed by 51% of infiltrating cells, while 41% expressed MIP-1alpha, whereas 22 and 7% expressed RANTES and IL-8, respectively. CONCLUSION: Chemokines expressed by ductal epithelial cells may attract circulating leucocytes, in particular CD4+ T cells, towards the site of inflammation, thereby orchestrating the influx of MN cells characteristically seen in MSGs in SS. Chemokines may be induced directly by a putative triggering agent for SS, or secondary to the release of pro-inflammatory cytokines produced by epithelial cells. These findings further implicate epithelial cells as playing a major role in the pathogenesis of SS and implicate chemokines in the leucocyte recruitment in this setting.