A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
The adipocyte-specific hormone leptin, the product of the obese ( ob ) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure 1 , 2 , 3 , 4 . Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family 5 ,...
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| Veröffentlicht in: | Nature (London) 1998-03, Vol.392 (6674), p.398-401 |
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| creator | Clément, Karine Vaisse, Christian Lahlou, Najiba Cabrol, Sylvie Pelloux, Veronique Cassuto, Dominique Gourmelen, Micheline Dina, Christian Chambaz, Jean Lacorte, Jean-Marc Basdevant, Arnaud Bougnères, Pierre Lebouc, Yves Froguel, Philippe Guy-Grand, Bernard |
| description | The adipocyte-specific hormone leptin, the product of the
obese
(
ob
) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure
1
,
2
,
3
,
4
. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family
5
,
6
,
7
. In rodents, homozygous mutations ingenes encoding leptin
1
or the leptin receptor
6
cause early-onsetmorbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism
8
. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity
9
. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans. |
| doi_str_mv | 10.1038/32911 |
| format | Article |
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obese
(
ob
) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure
1
,
2
,
3
,
4
. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family
5
,
6
,
7
. In rodents, homozygous mutations ingenes encoding leptin
1
or the leptin receptor
6
cause early-onsetmorbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism
8
. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity
9
. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans.</description><identifier>ISSN: 0028-0836</identifier><identifier>EISSN: 1476-4687</identifier><identifier>DOI: 10.1038/32911</identifier><identifier>PMID: 9537324</identifier><identifier>CODEN: NATUAS</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Adult ; Biological and medical sciences ; Body Height ; Body Weight ; Carrier Proteins - genetics ; Carrier Proteins - physiology ; Family Health ; Female ; Genes ; Genotype ; Homozygote ; Hormones ; Human Growth Hormone - metabolism ; Humanities and Social Sciences ; Humans ; Infertility ; letter ; Male ; Medical sciences ; Metabolic diseases ; multidisciplinary ; Mutation ; Obesity ; Obesity - genetics ; Pituitary Diseases - genetics ; Pituitary Diseases - physiopathology ; Pituitary gland ; Polymorphism, Single-Stranded Conformational ; Receptors, Cell Surface ; Receptors, Leptin ; RNA, Messenger - metabolism ; Rodents ; Science ; Science (multidisciplinary)</subject><ispartof>Nature (London), 1998-03, Vol.392 (6674), p.398-401</ispartof><rights>Macmillan Magazines Ltd. 1998</rights><rights>1998 INIST-CNRS</rights><rights>Copyright Macmillan Journals Ltd. Mar 26, 1998</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c520t-53094e3c40c64b88d993d9a8a3f2a20ddc2d1dcb01d2f5005eca21241fb31bfb3</citedby><cites>FETCH-LOGICAL-c520t-53094e3c40c64b88d993d9a8a3f2a20ddc2d1dcb01d2f5005eca21241fb31bfb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/32911$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/32911$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2184093$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9537324$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Clément, Karine</creatorcontrib><creatorcontrib>Vaisse, Christian</creatorcontrib><creatorcontrib>Lahlou, Najiba</creatorcontrib><creatorcontrib>Cabrol, Sylvie</creatorcontrib><creatorcontrib>Pelloux, Veronique</creatorcontrib><creatorcontrib>Cassuto, Dominique</creatorcontrib><creatorcontrib>Gourmelen, Micheline</creatorcontrib><creatorcontrib>Dina, Christian</creatorcontrib><creatorcontrib>Chambaz, Jean</creatorcontrib><creatorcontrib>Lacorte, Jean-Marc</creatorcontrib><creatorcontrib>Basdevant, Arnaud</creatorcontrib><creatorcontrib>Bougnères, Pierre</creatorcontrib><creatorcontrib>Lebouc, Yves</creatorcontrib><creatorcontrib>Froguel, Philippe</creatorcontrib><creatorcontrib>Guy-Grand, Bernard</creatorcontrib><title>A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction</title><title>Nature (London)</title><addtitle>Nature</addtitle><addtitle>Nature</addtitle><description>The adipocyte-specific hormone leptin, the product of the
obese
(
ob
) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure
1
,
2
,
3
,
4
. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family
5
,
6
,
7
. In rodents, homozygous mutations ingenes encoding leptin
1
or the leptin receptor
6
cause early-onsetmorbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism
8
. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity
9
. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Body Height</subject><subject>Body Weight</subject><subject>Carrier Proteins - genetics</subject><subject>Carrier Proteins - physiology</subject><subject>Family Health</subject><subject>Female</subject><subject>Genes</subject><subject>Genotype</subject><subject>Homozygote</subject><subject>Hormones</subject><subject>Human Growth Hormone - metabolism</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Infertility</subject><subject>letter</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>multidisciplinary</subject><subject>Mutation</subject><subject>Obesity</subject><subject>Obesity - genetics</subject><subject>Pituitary Diseases - genetics</subject><subject>Pituitary Diseases - physiopathology</subject><subject>Pituitary gland</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Receptors, Cell Surface</subject><subject>Receptors, Leptin</subject><subject>RNA, Messenger - metabolism</subject><subject>Rodents</subject><subject>Science</subject><subject>Science 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mutation in the human leptin receptor gene causes obesity and pituitary dysfunction</title><author>Clément, Karine ; Vaisse, Christian ; Lahlou, Najiba ; Cabrol, Sylvie ; Pelloux, Veronique ; Cassuto, Dominique ; Gourmelen, Micheline ; Dina, Christian ; Chambaz, Jean ; Lacorte, Jean-Marc ; Basdevant, Arnaud ; Bougnères, Pierre ; Lebouc, Yves ; Froguel, Philippe ; Guy-Grand, Bernard</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c520t-53094e3c40c64b88d993d9a8a3f2a20ddc2d1dcb01d2f5005eca21241fb31bfb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Body Height</topic><topic>Body Weight</topic><topic>Carrier Proteins - genetics</topic><topic>Carrier Proteins - physiology</topic><topic>Family Health</topic><topic>Female</topic><topic>Genes</topic><topic>Genotype</topic><topic>Homozygote</topic><topic>Hormones</topic><topic>Human Growth Hormone - metabolism</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Infertility</topic><topic>letter</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>multidisciplinary</topic><topic>Mutation</topic><topic>Obesity</topic><topic>Obesity - genetics</topic><topic>Pituitary Diseases - genetics</topic><topic>Pituitary Diseases - physiopathology</topic><topic>Pituitary gland</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Receptors, Cell Surface</topic><topic>Receptors, Leptin</topic><topic>RNA, Messenger - metabolism</topic><topic>Rodents</topic><topic>Science</topic><topic>Science (multidisciplinary)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Clément, 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(London)</jtitle><stitle>Nature</stitle><addtitle>Nature</addtitle><date>1998-03-26</date><risdate>1998</risdate><volume>392</volume><issue>6674</issue><spage>398</spage><epage>401</epage><pages>398-401</pages><issn>0028-0836</issn><eissn>1476-4687</eissn><coden>NATUAS</coden><abstract>The adipocyte-specific hormone leptin, the product of the
obese
(
ob
) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure
1
,
2
,
3
,
4
. Leptin acts through the leptin receptor, a single-transmembrane-domain receptor of the cytokine-receptor family
5
,
6
,
7
. In rodents, homozygous mutations ingenes encoding leptin
1
or the leptin receptor
6
cause early-onsetmorbid obesity, hyperphagia and reduced energy expenditure. These rodents also show hypercortisolaemia, alterations in glucose homeostasis, dyslipidaemia, and infertility due to hypogonadotropic hypogonadism
8
. In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity
9
. Here we describe a homozygous mutation in the human leptin receptor gene that results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains. In addition to their early-onset morbid obesity, patients homozygous for this mutation have no pubertal development and their secretion of growth hormone and thyrotropin is reduced. These results indicate that leptin is an important physiological regulator of several endocrine functions in humans.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>9537324</pmid><doi>10.1038/32911</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-0836 |
| ispartof | Nature (London), 1998-03, Vol.392 (6674), p.398-401 |
| issn | 0028-0836 1476-4687 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79778438 |
| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature Journals Online |
| subjects | Adult Biological and medical sciences Body Height Body Weight Carrier Proteins - genetics Carrier Proteins - physiology Family Health Female Genes Genotype Homozygote Hormones Human Growth Hormone - metabolism Humanities and Social Sciences Humans Infertility letter Male Medical sciences Metabolic diseases multidisciplinary Mutation Obesity Obesity - genetics Pituitary Diseases - genetics Pituitary Diseases - physiopathology Pituitary gland Polymorphism, Single-Stranded Conformational Receptors, Cell Surface Receptors, Leptin RNA, Messenger - metabolism Rodents Science Science (multidisciplinary) |
| title | A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction |
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