Dap. Evans et al., MUTANT VASOPRESSIN PRECURSORS IN THE HUMAN HYPOTHALAMUS - EVIDENCE FOR NEURONAL SOMATIC MUTATIONS IN MAN, Neuroscience, 71(4), 1996, pp. 1025-1030
We report here the expression of mutant proteins displaying the fl rea
ding frame of the vasopressin and oxytocin precursors in magnocellular
neurons of the human hypothalamus. Our data demonstrate a high freque
ncy of frameshift mutations in these neurons and thus provide the firs
t evidence of somatic mutations in neurons of the human brain. The res
ults imply that other neuronal populations and specific genes may also
undergo similar mutational events with possible consequences for neur
onal functioning and pathology.