[Huntington chorea. Animal models reveal new hypotheses for pathophysiology and therapy].
Huntington's disease (HD) is member of a growing family of neurodegenerative diseases which are caused by a CAG-Triplet expansion in the coding region of their respective genes. The results of the research of the last years is very suggestive of a common pathomechanisms of all these diseases even though their clinical appearance may be quite different. The development of new animal models by transferring the human gene defect into the mouse genome has led to the finding of so-called intranuclear inclusion bodies. This new observation allowed to come closer to solving the problem how this genetic defect causes neurodegeneration. Recent studies on transgenic HD mice could also demonstrate a possible connection between the genetic defect and glutamate exitotoxicity in the neurodegenerative process of HD which had been emphasized by earlier animal models of the disease. Transgenic animal models of HD will have an important impact on the understanding of the disease mechanisms and may contribute to a faster development and testing of new therapeutic approaches.
Kosinski
C M
CM
Neurologische Klinik, Medizinische Fakultät der RWTH, Aachen.
Cha
J H
JH
Young
A B
AB
Schwarz
M
M
D000818:Animals; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D016923:Cell Death / Q000235:genetics / Q000502:physiology; D004195:Disease Models, Animal; D018698:Glutamic Acid / Q000502:physiology; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D051379:Mice; D008822:Mice, Transgenic; D008957:Models, Genetic; D009410:Nerve Degeneration / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics / Q000502:physiology; D018911:Trinucleotide Repeats / Q000235:genetics
D018094:Receptors, Metabotropic Glutamate; D018698:Glutamic Acid