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Hum Mutat. 1995;5(3):191-6.

Transthyretin mutations in health and disease.

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  • 1Instituto de Ciências Biomédicas, Universidade do Porto, Portugal.


To date, over 40 different mutations in transthyretin (TTR) have been associated with amyloid deposition. The major unresolved problem is the correlation between the clinical heterogeneity and the genetic heterogeneity. For instance, whereas some mutations produce neuropathy and some give rise to cardiomyopathy, others produce vitreous opacities, the vast majority being neuropathic. Moreover, some mutations are not amyloidogenic but are responsible to hyperthyroxinemias (by virtue of the protein function in thyroid transport), whereas others are apparently nonpathogenic. The study of TTR variants is very important to the understanding of the amyloid formation process and to establish a relationship between the structure and function of the molecule. The results of current TTR mutation screening programs and their characterization are summarized.

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