HOMOZYGOUS VARIEGATE PORPHYRIA IN A MOUSE MODEL

In a research project designed to learn more about the impact of variegate porphyria mutations on human health, a team led by Prof Meissner bred a strain of mice in which the typical South African R59W mutation was introduced into the protoporphyrinogen oxidase (PPOX) gene. One of the experiments was to mate pairs of mice, each of which was heterozygous for the R59W mutation. The picture above shows three mouse fetuses at about 10 days. On the left is a heterozygous fetus—this is indistinguishable from normal. The two on the right are homozygous. The severe failure in development is striking, showing that homozygous offspring are non-viable. The human counterpart is that we have never encountered R59W homozygotes in our South African population despite the frequency of the mutation.

Courtesy of Prof Peter Meissner

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