Dyskeratosis Congenita as a Premature Ageing Syndrome

As we will discuss below, DC is genetically heterogeneous, but the two known genetic causes of DC both affect components of the telomerase complex and lead to decreased telomerase levels (Heiss et al. 1998, Mitchell et al. 1999b, Vulliamy et al. 2001a). Moreover, all DC patients have very short telomeres (Vulliamy et al. 2001b). Thus DC offers us the opportunity to observe the effects of telomerase deficiency on the whole organism and constitutes a stringent test of the importance of telomerase in the process of ageing.

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