Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus - Takeaways - MDSpire

Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus

  • By

  • Alice Giontella

  • Mikael Åkerlund

  • Kevin Bronton

  • Cristiano Fava

  • Luca A Lotta

  • Aris Baras

  • John D Overton

  • Marcus Jones

  • Andreas Bergmann

  • Paul Kaufmann

  • Yulia Ilina

  • Olle Melander

  • August 13, 2024

  • 0 min

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  • 1

    Peptidylglycine-α-amidating monooxygenase (PAM) is essential for the amidation of bioactive peptides in the endocrine system.

  • 2

    Two loss-of-function variants in the PAM gene significantly decrease PAM-amidating activity and are linked to diabetes and reduced insulin secretion.

  • 3

    Carriers of PAM mutations exhibit decreased muscle mass and function, increasing their risk of sarcopenia by 30%.

  • 4

    The study analyzed data from three cohorts, including over 300,000 participants, to assess the impact of PAM deficiency on metabolic traits.

  • 5

    Identifying PAM loss-of-function carriers early could enable targeted interventions and novel therapies to restore enzymatic activity.

Original Source(s)

Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus

  • by Alice Giontella, Mikael Åkerlund, Kevin Bronton, Cristiano Fava, Luca A Lotta, Aris Baras, John D Overton, Marcus Jones, Andreas Bergmann, Paul Kaufmann, Yulia Ilina, Olle Melander

  • August 13, 2024

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