Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Familial hypercholanemia (FHC) is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. We show here that FHC in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and bile acid Coenzyme A: amino acid N-acyltransferase (encoded by BAAT). The mutation of TJP2, which occurs in the first PDZ domain, reduces domain stability and ligand binding in vitro. We noted a morphological change in hepatic tight junctions. The mutation of BAAT, a bile acid-conjugating enzyme, abrogates enzyme activity; serum of individuals homozygous with respect to this mutation contains only unconjugated bile acids. Mutations in both TJP2 and BAAT may disrupt bile acid transport and circulation. Inheritance seems to be oligogenic, with genotype at BAAT modifying penetrance in individuals homozygous with respect to the mutation in TJP2.     

The effect of phytohemagglutinin in vivo on the mitotic activity of the bone marrow cells in young rats

Résumé Chez des rats (mâles et femelles) auxquels on a administré de la phytohémagglutinine P (Difco) par voie intrapéritonienne, l'activité mitotique dans les cellules de la moelle des os a été notablement plus grande à l'âge de trois et six semaines qu'à l'âge de douze semaines (par comparasion avec les animaux de contrôle).     

Tumor necrosis after the intra-tumor injection of chemical agents and colloidal radioisotopes

Zusammenfassung Mehrere klinisch wirksame, geschwulsthemmende Stoffe verursachten relativ rasch Nekrosen der Mäusesarkoma-180-Tumoren, wenn sie, entsprechend der klinischen Anwendung von radioaktiven Kolloiden, direkt in den Tumor injiziert wurden. Sowohl unlösliche, wie lösliche Verbindungen ergaben Nekrose. In den Tumor injiziertes 6-Merkaptopurin, Diäthylstilböstrol und -Naphtyl-Stickstoff-Lost verminderten alle bei Ratten das Wachstum des Jensen-Sarkoms.