A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

A five-month-old Japanese boy was found to have marked glycogen accumulation only in the heart. A survey of enzymes revealed normal activities of phosphorylase, cyclic AMP-dependent protein kinase, acid maltase and amylo-1,6-glucosidase. However, the heart had capacity of activating neither rabbit muscle phosphorylase b nor endogenous phosphorylase b, which was converted to active form only when supplemented rabbit muscle phosphorylase kinase. In contrast to the heart, activities of phosphorylase kinase were found within normal levels in other organ tissues so far tested. These findings indicate that the present case of the cardiac glycogenosis is caused by deficiency of cardiac phosphorylase kinase.     

Reproductive Functions Illustrating Direct and Indirect Effects of Genes on Behavior

Effects of gene products on reproductive behavior which are relatively direct include those of the estrogen receptor and progesterone receptor. For example, work with estrogen receptor-deficient (ERKO) female mice has extended previous evidence contributing to the neurochemical analysis of lordosis behavior. On the other hand, sex differences in behavior present a classic example of indirect effects of genes on behavior. Work with ERKO male mice shows the necessity of ER gene expression for normal masculinization of the brain. In particular, behavioral assay results distinguish apparent motivational performance of ERKO males from male mating reflexes: the former is similar to that of wild-type males in important respects, while the latter are deficient in ERKO males. The present paper first reviews a small number of clear genetic contributions to reproductive behaviors, and then reports one experiment pertinent to the interpretation of the behavioral status of ERKO male mice.     

A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB

Uptake of glucose-6-phosphate by microsomes of hepatocyte in rats, human controls and patients with glycogen storage disease type Ia and Ib was studied. In rat the uptake of glucose-6-phosphate increased rapidly and reached to a plateau, but mannose-6-phosphate was not accumulated. These findings indicate that a glucose-6-phosphate specific transport system exists in the microsomal membrane. In human controls and patients with glycogen storage disease type Ia the uptake of glucose-6-phosphate was clearly observed. On the other hand, no accumulation of it was detected in a patient with glycogen storage disease type Ib. These data provide a direct evidence of the defect in the glucose-6-phosphate transport system of hepatic microsomal membrane in glycogen storage disease type Ib.     

T cells in a suppressor circuit and non-T: non-B cells bear different 1-J determinants

T cells involved in the generation of suppressor activity bear an I-J-subregion controlled determinant (e. g., J₁) which is distinct from that (e. g., J₁) found on non-T: non-13 accessory cells. T-cell subsets examined include Ly-1 inducer and Ly-1,2 acceptor cells which collaborate to generate suppressor activity in the in vitro sheep red blood cell antibody system. Non-T:non-B accessory cells examined include accessory cells involved in concanavalin-A induced, T-cell proliferative responses and in in vitro antibody responses to sheep red blood cells. These results provide evidence for serologic and genetic complexity of the I-J subregion of the murine H-2 gene complex.     

A non-T: Non-B cell bears I-A,I-E,I-J,and Tla (Qa-1?) determinants

A non-T:non-B accessory cell in peritoneal washout or spleen-cell suspensions facilitates T-cell proliferative responses to the mitogen, concanavalin A. Utilizing monoclonal antibody, we show that this accessory cell bears the same I-A- and I-E-subregion controlled determinants as found on B cells. In addition, the same accessory cell bears a Tla (Qa-1?)-region and an I-J-subregion controlled determinant. This I-J determinant is also present on splenic accessory cells involved in in vitro antibody responses to sheep red blood cells. Data in a companion paper show that not all anti-I-J sera contain antibody reactive with the accessory cell, and suggest that T cells involved in the generation of suppressor activity and accessory cells bear different I-J-subregion controlled determinants.     

Receptors for Dolichos biflorus agglutinin: New cell surface markers on a spontaneous leukemia

$\text{Dolichos biflorus}$ agglutinin (DBA), which is specific for terminal α-N-acetylgalactosamine, bound to a spontaneous leukemia cell of $\text{GRS}\text{A}$ mice, but not to lymphoid cells of the host. The DBA receptors were isolated from the leukemia cell labeled with [³H]-galactose after detergent solubilization and affinity chromatography on DBA-agarose. The major component of the receptors migrated as a glycoprotein of apparent molecular weight 100,000 upon SDS gel electrophoresis. Alkaline treatment degraded the glycoproteins, releasing oligosaccharides of molecular weight around 1,000.     

A New Fungal Endophyte,Scolecobasidium humicola,Promotes Tomato Growth under Organic Nitrogen Conditions

A new fungal endophyte, Scolecobasidium humicola, was identified as a common dark septate endophytic fungal (DSE) species under both natural and agricultural conditions. This fungus was found to grow endophylically in the roots of tomato seedlings. Light microscopy of cross-sections of colonized tomato roots showed that the intercellular, pigmented hyphae of the fungus were mostly limited to the epidermal layer and formed outer mantle-like structures. Two isolates of S. humicola, H2-2 and F1-3, have shown the ability to increase plant biomass with an organic nitrogen source. This finding is the first report of S. humicola as an endophyte and could help to improve plant growth with organic nitrogen sources.     

Genotype/age interactions on aggressive behavior in gonadally intact estrogen receptor beta knockout (betaERKO) male mice

Estrogen, as an aromatized metabolite of testosterone, has a facilitatory effect on male aggressive behavior in mice. Two subtypes of estrogen receptors, alpha (ER-alpha) and beta (ER-beta), in the brain are known to bind estrogen. Previous studies revealed that the lack of ER-alpha gene severely reduced the induction of male aggressive behavior. In contrast, mice that lacked the ER-beta gene tended to be more aggressive than wild type (WT) control mice, although the behavioral effects of ER-beta gene disruption were dependent on their social experience. These findings lead us to hypothesize that estrogen may facilitate aggression via ER-alpha whereas it may inhibit aggression via ER-beta. In the present study, we further investigated the role of ER-beta in the regulation of aggressive behavior by examining developmental changes starting at the time of first onset, around the age of puberty. Aggressive behaviors of ER-beta gene knockout (betaERKO) mice were examined in three different age groups, puberty, young-adult, and adult. Each mouse was tested every other day for three times in a resident-intruder paradigm against olfactory bulbectomized intruder mice and their trunk blood was collected for measurements of serum testosterone after the completion of the study. Overall, betaERKO mice were significantly more aggressive than WT. These genotype differences were more pronounced in puberty and young adult age groups, but not apparent in the adult age group, in which betaERKO mice were less aggressive than those in two younger age groups. Serum testosterone levels of betaERKO mice were significantly higher than those of WT mice only in the pubertal age group, but not in young adult (when betaERKO mice were still significantly more aggressive than WT mice) and adult (when no genotype differences in aggression were found) age groups. These results suggest that ER-beta mediated actions of gonadal steroids may more profoundly be involved in the inhibitory regulation of aggressive behavior in pubertal and young adult mice.