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ČeštinaEnglish

Age of obesity onset in MC4R mutation carriers 

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F15%3AA1801I72" target="_blank" >RIV/61988987:17110/15:A1801I72 - isvavai.cz</a>

  • Result on the web

    <a href="http://dx.doi.org/10.4149/endo_2015_03_137" target="_blank" >http://dx.doi.org/10.4149/endo_2015_03_137</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.4149/endo_2015_03_137" target="_blank" >10.4149/endo_2015_03_137</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Age of obesity onset in MC4R mutation carriers 

  • Original language description

    Objectives. The mutations in gene for the melanocortin-4 receptor (MC4R) are the most common etiology factors of monogenic obesity development. Recently, it has been shown that current life style has a significant impact on the phenotype of MC4R mutation carriers - increases the penetrance of the mutations. We aimed to study the impact of the current age on the time of obesity onset among MC4R mutation carriers.Methods. DNA analysis of the MC4R gene was performed in 268 unrelated Slovak and Moravian obese children and adolescents 18 years and 28 blood relatives >18 years of the probands with a mutation.Results. Three different previously described heterozygous loss of function MC4R mutations (p.Ser19Alafs*34, p.Ser127Leu, and p.Gly181Asp) were found in 3 &lt;18 years probands, 3 adult probands, and 6 adult obese/overweight family relatives. The age of obesity onset in mutation carriers was 1 year in all probands in the children group and 1-35 years (median 11 years) in adults. The age of the obesity onset significantly correlated (R=0.809, p=0.028) with the current age in all of the MC4R mutation carriers.Conclusions. The age of obesity onset in the present child generation of MC4R mutation carriers is decreasing compared to the age of onset in their parents' generation. This is in agreement with similarly increasing penetrance of obesity in MC4R mutation carriers and it points out to escalation of obesogenic potential of environment

  • Czech name

    —

  • Czech description

    —

Classification

  • Type

    J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database

  • CEP classification

    —

  • OECD FORD branch

    30202 - Endocrinology and metabolism (including diabetes, hormones)

Result continuities

  • Project

    —

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2015

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Endocrine Regulations

  • ISSN

    1210-0668

  • e-ISSN

    —

  • Volume of the periodical

    49

  • Issue of the periodical within the volume

    3

  • Country of publishing house

    SK - SLOVAKIA

  • Number of pages

    4

  • Pages from-to

    137-140

  • UT code for WoS article

    —

  • EID of the result in the Scopus database

    2-s2.0-84956594964

Similar results(10)

Treatment Options for Children with Monogenic Forms of ObesityMelanocortin pathways: suppressed and stimulated melanocortin-4 receptor (MC4R)Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.