We describe a novel hereditary cancer syndrome in the rat that is transmitted by a recessive gene mutation. Animals exhibiting the mutant phenotype develop multiple neuroendocrine malignancies within the first year of life. The endocrine neoplasia is characterized by bilateral adrenal pheochromocytoma, multiple extra-adrenal pheochromocytoma, bilateral medullary thyroid cell neoplasia, bilateral parathyroid hyperplasia, and pituitary adenoma. The appearance of neoplastic disease is preceded by the development of bilateral juvenile cataracts. Although the spectrum of affected tissues is reminiscent of human forms of multiple endocrine neoplasia (MEN), no germ-line mutations were detected in the Ret or Menin genes that are responsible for the dominantly inherited MEN syndromes in humans. Segregation studies in F1 and F2 crosses yielded frequencies of affected animals entirely consistent with a recessive autosomal mode of inheritance. The lack of the phenotype in F1 animals effectively excludes a germ-line tumor suppressor gene mutation as the causal event. The absence of mutation of known MEN genes and the unique constellation of affected tissues, plus the recessive mode of inheritance, lead us to conclude that the mutation of an as yet unknown gene is responsible for this syndrome of inherited neuroendocrine cancer.

/pdf/recessive-transmission-of-a-multiple-endocrine-neoplasia-sxug2guiph.pdf

Recessive Transmission of a Multiple Endocrine Neoplasia Syndrome in the Rat

Cataract mutations and lens development.

Three murine cataract mutants (Cat2) are defective in different γ- crystallin genes

Expression, regulation and function of Na,K-ATPase in the lens

/pdf/animal-models-in-eye-research-1tf7ntjtgf.pdf

Animal Models in Eye Research.

A dominant cataract mutation was detected recently among the offspring of x-ray-irradiated male mice. The mutation, which causes total lens opacity, has provisionally been designated by the gene symbol Cat-2t. In the lenses of heterozygous and homozygous Cat-2t mutants, the epithelial and fiber cells were swollen and the lens capsule was ruptured. The histologic analysis demonstrated a complete destruction of the cellular organization of the lens, which might be caused by its altered developmental processes. The data derived from biochemical investigations indicate that biochemistry of the cataractous Cat-2t lenses is affected: the osmotic state as indicated by the increased water content and increased Na(+)-K(+)-adenosinetriphosphatase (ATPase) activity; the energy state as indicated by the decreased adenosine triphosphate (ATP) concentration; and the redox state as indicated by the enhanced content of oxidized glutathione. Additionally, the lenticular protein composition is altered because of the presence of vimentin in the water-soluble fraction. This cannot be explained by the enhanced crosslinking activity of transglutaminase. The changes of the osmotic, energy, and redox states are considered to be secondary in relation to the altered lenticular development. In contrast, the variations concerning vimentin and transglutaminase might be a biochemical indication of the changed development. Possible similarities to other dominantly expressed murine cataract mutants are discussed.

Characterization of Cat-2t, a radiation-induced dominant cataract mutation in mice.

Oxidative Prozesse spielen neben osmotischen Prozessen und Veranderungen der Kristalline eine bedeutende Rolle bei der Kataraktentstehung (s. J. Graw: ,,Beteiligung oxidativer Prozesse bei der Kararaktentstehung“, S. 125). Bei der Untersuchung von Kataraktmutanten ist es deshalb wichtig, Parameter zu finden, die Hinweise auf die Beteiligung der verschiedenen Prozesse geben konnen. Als Indikatoren fur eine oxidative Belastung benutzten fruhere Untersuchungen an der Modellmutante Nop [1, 2] oxidiertes Glutathion (GSSG) sowie die Enzyme Superoxiddismutase (SOD), Glutathionreduktase, Glutathionperoxidase, Katalase und Glucose-6-Phosphat-Dehydrogenase. Da nur GSSG und SOD bei der Mutante Nop Veranderungen zeigten, wurden an einer Reihe von dominanten Kataraktmutanten aus Bestrahlungsversuchen diese Parameter untersucht; erste Ergebnisse werden dargestellt.

Oxidative Prozesse in Linsen verschiedener dominanter Kataraktmutanten der Maus

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Characterization of Cat-2t, a radiation-induced dominant cataract mutation in mice.

Oxidative Prozesse in Linsen verschiedener dominanter Kataraktmutanten der Maus