Imperial College London
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Dr Sadia Saeed

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Honorary Research Fellow
 
 
 
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Contact

 

+44 (0)20 7594 6537s.saeed08

 
 
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Location

 

Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Saeed:2018:10.1038/s41588-017-0023-6,
author = {Saeed, S and Bonnefond, A and Tamanini, F and Mirza, MU and Manzoor, J and Janjua, QM and Din, SM and Gaitan, J and Milochau, A and Durand, E and Vaillant, E and Haseeb, A and De, Graeve F and Rabearivelo, I and Sand, O and Queniat, G and Boutry, R and Schott, DA and Ayesha, H and Ali, M and Khan, WI and Butt, TA and Rinne, T and Stumpel, C and Abderrahmani, A and Lang, J and Arslan, M and Froguel, P},
doi = {10.1038/s41588-017-0023-6},
journal = {NATURE GENETICS},
pages = {175--179},
title = {Loss-of-function mutations in ADCY3 cause monogenic severe obesity},
url = {http://dx.doi.org/10.1038/s41588-017-0023-6},
volume = {50},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Study of monogenic forms of obesity has demonstrated the pivotal role of the central leptin–melanocortin pathway in controlling energy balance, appetite and body weight1. The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin–melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations2. We previously showed that, in a consanguineous population in Pakistan, recessive mutations in known obesity-related genes explain ~30% of cases with severe obesity3,4,5. These data suggested that new monogenic forms of obesity could also be identified in this population. Here we identify and functionally characterize homozygous mutations in the ADCY3 gene encoding adenylate cyclase 3 in children with severe obesity from consanguineous Pakistani families, as well as compound heterozygous mutations in a severely obese child of European-American descent. These findings highlight ADCY3 as an important mediator of energy homeostasis and an attractive pharmacological target in the treatment of obesity.
AU  - Saeed,S
AU  - Bonnefond,A
AU  - Tamanini,F
AU  - Mirza,MU
AU  - Manzoor,J
AU  - Janjua,QM
AU  - Din,SM
AU  - Gaitan,J
AU  - Milochau,A
AU  - Durand,E
AU  - Vaillant,E
AU  - Haseeb,A
AU  - De,Graeve F
AU  - Rabearivelo,I
AU  - Sand,O
AU  - Queniat,G
AU  - Boutry,R
AU  - Schott,DA
AU  - Ayesha,H
AU  - Ali,M
AU  - Khan,WI
AU  - Butt,TA
AU  - Rinne,T
AU  - Stumpel,C
AU  - Abderrahmani,A
AU  - Lang,J
AU  - Arslan,M
AU  - Froguel,P
DO  - 10.1038/s41588-017-0023-6
EP  - 179
PY  - 2018///
SN  - 1061-4036
SP  - 175
TI  - Loss-of-function mutations in ADCY3 cause monogenic severe obesity
T2  - NATURE GENETICS
UR  - http://dx.doi.org/10.1038/s41588-017-0023-6
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000424519200007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/59066
VL  - 50
ER  -
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