Disorders of IGFs and IGF-1R signaling pathways
The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitud...
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| Published in | Molecular and cellular endocrinology Vol. 518; p. 111035 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | English |
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Elsevier B.V
01.12.2020
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| Abstract | The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitudinal growth. IGF-II is expressed in many tissues, notably the placenta, to regulate human pre- and post-natal growth and development. This review provides a brief introduction to the IGF system and summarizes findings from reports arising from recent larger genomic sequencing studies of human genetic mutations in IGF1 and IGF2 and genes of proteins regulating IGF action, namely the IGF-1R, IGF-1R signaling pathway components and the IGF binding proteins (IGFBPs). A perspective on the effect of homozygous mutations on structure and function of the IGFs and IGF-1R is also given and this is related to the effects on growth.
•Human IGF-I deficiency is associated with severe pre- and postnatal growth failure, microcephaly, intellectual impairment and sensorineural deafness.•IGF-II deficiency in humans is associated with Silver-Russell syndrome.•Homozygous defects of the human IGF1R causes a severe pre- and postnatal growth failure, microcephaly, developmental delay and elevated serum IGF-I.•Recent structures of the IGF-I:IGF-1R complex can help explain how homozygous mutations of IGF-I and IGF-1R affects their function. |
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| AbstractList | The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitudinal growth. IGF-II is expressed in many tissues, notably the placenta, to regulate human pre- and post-natal growth and development. This review provides a brief introduction to the IGF system and summarizes findings from reports arising from recent larger genomic sequencing studies of human genetic mutations in IGF1 and IGF2 and genes of proteins regulating IGF action, namely the IGF-1R, IGF-1R signaling pathway components and the IGF binding proteins (IGFBPs). A perspective on the effect of homozygous mutations on structure and function of the IGFs and IGF-1R is also given and this is related to the effects on growth.The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitudinal growth. IGF-II is expressed in many tissues, notably the placenta, to regulate human pre- and post-natal growth and development. This review provides a brief introduction to the IGF system and summarizes findings from reports arising from recent larger genomic sequencing studies of human genetic mutations in IGF1 and IGF2 and genes of proteins regulating IGF action, namely the IGF-1R, IGF-1R signaling pathway components and the IGF binding proteins (IGFBPs). A perspective on the effect of homozygous mutations on structure and function of the IGFs and IGF-1R is also given and this is related to the effects on growth. The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitudinal growth. IGF-II is expressed in many tissues, notably the placenta, to regulate human pre- and post-natal growth and development. This review provides a brief introduction to the IGF system and summarizes findings from reports arising from recent larger genomic sequencing studies of human genetic mutations in IGF1 and IGF2 and genes of proteins regulating IGF action, namely the IGF-1R, IGF-1R signaling pathway components and the IGF binding proteins (IGFBPs). A perspective on the effect of homozygous mutations on structure and function of the IGFs and IGF-1R is also given and this is related to the effects on growth. The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitudinal growth. IGF-II is expressed in many tissues, notably the placenta, to regulate human pre- and post-natal growth and development. This review provides a brief introduction to the IGF system and summarizes findings from reports arising from recent larger genomic sequencing studies of human genetic mutations in IGF1 and IGF2 and genes of proteins regulating IGF action, namely the IGF-1R, IGF-1R signaling pathway components and the IGF binding proteins (IGFBPs). A perspective on the effect of homozygous mutations on structure and function of the IGFs and IGF-1R is also given and this is related to the effects on growth. •Human IGF-I deficiency is associated with severe pre- and postnatal growth failure, microcephaly, intellectual impairment and sensorineural deafness.•IGF-II deficiency in humans is associated with Silver-Russell syndrome.•Homozygous defects of the human IGF1R causes a severe pre- and postnatal growth failure, microcephaly, developmental delay and elevated serum IGF-I.•Recent structures of the IGF-I:IGF-1R complex can help explain how homozygous mutations of IGF-I and IGF-1R affects their function. |
| ArticleNumber | 111035 |
| Author | Wit, Jan M. Blyth, Andrew J. Forbes, Briony E. |
| Author_xml | – sequence: 1 givenname: Briony E. surname: Forbes fullname: Forbes, Briony E. email: briony.forbes@flinders.edu.au organization: Discipline of Medical Biochemistry, Flinders Health and Medical Research Institute, Flinders University, Australia – sequence: 2 givenname: Andrew J. surname: Blyth fullname: Blyth, Andrew J. organization: Discipline of Medical Biochemistry, Flinders Health and Medical Research Institute, Flinders University, Australia – sequence: 3 givenname: Jan M. surname: Wit fullname: Wit, Jan M. organization: Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands |
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| Title | Disorders of IGFs and IGF-1R signaling pathways |
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