V1, Here's the summary:
Congenital leptin deficiency is associated with severe early-onset
obesity in humans
The extreme obesity of the obese (ob/ob) mouse is attributable to mutations
in the gene encoding leptin, an adipocyte-specific secreted protein which has
profound effects on appetite and energy expenditure. The authors know of
no equivalent evidence regarding leptins role in the control of fat mass in
humans. They have examined two severely obese children who are members
of the same highly consanguineous pedigree. Their serum leptin levels were
very low despite their markedly elevated fat mass and, in both, a
homozygous frame-shift mutation involving the deletion of a single guanine
nucleotide in codon 133 of the gene for leptin was found. The severe obesity
found in these congenitally leptin-deficient subjects provides the first genetic
evidence that leptin is an important regulator of energy balance in humans.
C T Montague, I S Farooqi, J P Whitehead, M A Soos, H Rau, N J
Wareham, C P Sewter, J E Digby, S N Mohammed, J A Hurst, C H
Cheetham, A R Earley, A H Barnett, J B Prins & S O'Rahilly
Congenital leptin deficiency is associated with severe early-onset
obesity in humans (Letter to Nature)
Nature 387, 903 (1997) |
