The illnesses of Charles Darwin and his children: a lesson in consanguinity

作者：Hayman John^*; Alvarez Gonzalo; Ceballos Francisco C; Berra Tim M

来源：Biological Journal of the Linnean Society, 2017, 121(2): 458-468.

DOI：10.1093/biolinnean/blw041

• Charles Darwin
• inbreeding-consanguinity
• mtDNA mutation
• mitochondria
• somatization disorder
• Tourette syndrome
• cyclic vomiting
• MELAS

Charles Darwin's lifetime illness with its many disabling symptoms may be explained by an inherited pathological mtDNA mutation. Although such a diagnosis explains Darwin's illness and the strange illnesses that afflicted his Wedgwood maternal forebears, it does not explain the illnesses that affected Darwin's children. The sicknesses of the children were very different from those of the father and also different from each other. Although not directly inherited from their father, these illnesses may have been due, at least in part, to inbreeding since they were the inbred progeny from a consanguineous couple (Darwin and his wife were first cousins), a condition known to enhance susceptibility to recessive genetic disorders and infectious diseases. Darwin's inherited illness may be traced back through three, perhaps four maternal generations. Consanguinity was present in the marriage of Darwin's maternal grandparents, but the purported mitochondrial mutation appears to have been present prior to this union. The origin of any mutation appears lost in the mist of unrecorded history.

• 出版日期2017-6-1