[Hereditary amyloidosis].
Amyloidoses are characterized by the deposition of non soluble proteins in tissues. Clinical aspects of hereditary amyloidoses are very diverse, and they offer many diagnosis problems to the physician. Biochemical and genetic aspects are also various. Several proteins are implicated in these hereditary diseases mainly: transthyretin, apolipoprotein A1, gelsolin, fibrinogen alpha chain and lysozyme. Studies on structural changes induced by the mutations in the transthyretin should bring new data relevant to our understanding of the amyloidogenic process. Transgenic mice with mutated transthyretin are a good model and will allow new pathogenic approach and therapeutic intervention.
Grateau
G
G
Praticien hospitalier universitaire, service de médecine interne, Hôtel-Dieu de Paris, France.
D017772:Amyloid Neuropathies / Q000235:genetics; D000686:Amyloidosis / Q000145:classification / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011228:Prealbumin / Q000235:genetics
D011228:Prealbumin
Amyloses héréditaires.