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Study · Not a test of the peptide alone · 2007

2 results

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association1 Jan 2007Cited by 17 (Europe PMC)

PMID17286227 (opens in a new tab)DOI10.1055/s-2007-949150 (opens in a new tab)PepBankPUB-17286227
Publisher pagePubMedAsk about this study
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Summary

The text of this summary is not shown here, because the article license does not allow reuse. Read it at the source (opens in a new tab)

Text rights: Publisher copyright. Results still quote short attributed sentences.

Results from this study2

No result from this study comes from a test of the peptide.

Studies that did not test the peptide alone2

In this study, Melanotan I (afamelanotide) was a lab tool or a carrier, part of a mix, or the subject of a lab method. These results are not evidence about taking Melanotan I (afamelanotide).

  1. 01LabNot a test of Melanotan I (afamelanotide) aloneIn vitro (cells)Mechanism

    In vitro, the S136F mutant MC4R showed a complete loss of signal transduction activity when challenged with the agonist NDP-alpha-MSH.

    In plain wordsIn lab tests, a receptor variant found in a girl with extreme obesity did not respond to the agonist NDP-alpha-MSH.

    Peptide
    Melanotan I (afamelanotide)
    Outcome
    Not applicableSignal transduction of S136F mutant MC4R on challenge
    Study

    n: not reported in source

    Cells expressing mutant S136F MC4R
    Comparator
    Wild-type receptor
    Outcome group
    Receptor activity and mechanism · Metabolic and weight

    Source sentences

    Summary
    IN VITRO functional studies revealed a complete loss of signal transduction activity of the mutant receptor
    1 context sentence
    Summary · context
    Signal transduction properties of mutant MC4R was investigated by challenge with the highly potent agonist NDP-alpha-MSH.

    In this study, Melanotan I (afamelanotide) was a lab tool or a carrier, part of a mix, or the subject of a lab method. This result is not evidence about taking Melanotan I (afamelanotide).

  2. 02LabNot a test of Melanotan I (afamelanotide) aloneIn vitro (cells)Mechanism

    In vitro, cell surface expression of the S136F mutant MC4R was only slightly reduced compared with the wild-type receptor.

    In plain wordsIn lab tests, the variant receptor reached the cell surface almost as well as the normal receptor.

    Peptide
    Melanotan I (afamelanotide)
    Outcome
    Not applicableCell surface expression of S136F mutant MC4R
    Study

    n: not reported in source

    Cells expressing mutant S136F MC4R
    Comparator
    Wild-type receptor
    Outcome group
    Receptor activity and mechanism · Metabolic and weight

    Source sentences

    Summary
    cell surface expression was only slightly reduced compared to the wild-type receptor.
    1 context sentence
    Summary · context
    Signal transduction properties of mutant MC4R was investigated by challenge with the highly potent agonist NDP-alpha-MSH.

    In this study, Melanotan I (afamelanotide) was a lab tool or a carrier, part of a mix, or the subject of a lab method. This result is not evidence about taking Melanotan I (afamelanotide).

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 2Current

    13 Oct 2026, 21:44 UTC

    Study results updated

  2. Version 1

    13 Oct 2026, 16:31 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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