Metabolic diseases

Metabolic diseases occur when the body's usual metabolic processes are disrupted. These diseases can be congenital or acquired, for example, diabetes and phenylketonuria.

Latest Research and Reviews

  • Research | | open

    Type 2 diabetes is associated with islet amyloid deposits derived from islet amyloid polypeptide (IAPP) expressed by β-cells. Here the authors show that IAPP misfolded protein stress induces the hypoxia inducible factor 1 alpha injury repair pathway and activates survival metabolic changes mediated by PFKFB3.

    • Chiara Montemurro
    • , Hiroshi Nomoto
    • , Lina Pei
    • , Vishal S. Parekh
    • , Kenny E. Vongbunyong
    • , Suryakiran Vadrevu
    • , Tatyana Gurlo
    • , Alexandra E. Butler
    • , Rohan Subramaniam
    • , Eleni Ritou
    • , Orian S. Shirihai
    • , Leslie S. Satin
    • , Peter C. Butler
    •  & Slavica Tudzarova
  • Research |

    In this study, the authors use ATAC-seq and promoter capture Hi-C data from human adipocytes treated with fatty acids to identify gene–environment (G×E) interactions that influence body-mass index in humans. They report 154 genes that respond to saturated fat and discover 38 new G×E variants for body-mass index in data from the UK Biobank.

    • Kristina M. Garske
    • , David Z. Pan
    • , Zong Miao
    • , Yash V. Bhagat
    • , Caroline Comenho
    • , Christopher R. Robles
    • , Jihane N. Benhammou
    • , Marcus Alvarez
    • , Arthur Ko
    • , Chun Jimmie Ye
    • , Joseph R. Pisegna
    • , Karen L. Mohlke
    • , Janet S. Sinsheimer
    • , Markku Laakso
    •  & Päivi Pajukanta
    Nature Metabolism 1, 630-642
  • Research |

    Pancreatic β-cells are highly connected, and this network is crucial for the pulsatile release of insulin. Here Salem and colleagues demonstrated the existence of leader β-cells that respond first to glucose and are more closely linked to the other β-cells. They also showed that glucose increases β-cell calcium dynamics and connectivity between the leader and non-leader β-cells.

    • Victoria Salem
    • , Luis Delgadillo Silva
    • , Kinga Suba
    • , Eleni Georgiadou
    • , S. Neda Mousavy Gharavy
    • , Nadeem Akhtar
    • , Aldara Martin-Alonso
    • , David C. A. Gaboriau
    • , Stephen M. Rothery
    • , Theodoros Stylianides
    • , Gaelle Carrat
    • , Timothy J. Pullen
    • , Sumeet Pal Singh
    • , David J. Hodson
    • , Isabelle Leclerc
    • , A. M. James Shapiro
    • , Piero Marchetti
    • , Linford J. B. Briant
    • , Walter Distaso
    • , Nikolay Ninov
    •  & Guy A. Rutter
    Nature Metabolism 1, 615-629
  • Research | | open

    Our understanding of the functional link between differential DNA methylation and type 2 diabetes and obesity remains limited. Here the authors present a blood-based EWAS of fasting glucose and insulin among 4808 non-diabetic Europeans and identify nine CpGs not previously implicated in glucose, insulin homeostasis and diabetes.

    • Jun Liu
    • , Elena Carnero-Montoro
    • , Jenny van Dongen
    • , Samantha Lent
    • , Ivana Nedeljkovic
    • , Symen Ligthart
    • , Pei-Chien Tsai
    • , Tiphaine C. Martin
    • , Pooja R. Mandaviya
    • , Rick Jansen
    • , Marjolein J. Peters
    • , Liesbeth Duijts
    • , Vincent W. V. Jaddoe
    • , Henning Tiemeier
    • , Janine F. Felix
    • , Gonneke Willemsen
    • , Eco J. C. de Geus
    • , Audrey Y. Chu
    • , Daniel Levy
    • , Shih-Jen Hwang
    • , Jan Bressler
    • , Rahul Gondalia
    • , Elias L. Salfati
    • , Christian Herder
    • , Bertha A. Hidalgo
    • , Toshiko Tanaka
    • , Ann Zenobia Moore
    • , Rozenn N. Lemaitre
    • , Min A Jhun
    • , Jennifer A. Smith
    • , Nona Sotoodehnia
    • , Stefania Bandinelli
    • , Luigi Ferrucci
    • , Donna K. Arnett
    • , Harald Grallert
    • , Themistocles L. Assimes
    • , Lifang Hou
    • , Andrea Baccarelli
    • , Eric A. Whitsel
    • , Ko Willems van Dijk
    • , Najaf Amin
    • , André G. Uitterlinden
    • , Eric J. G. Sijbrands
    • , Oscar H. Franco
    • , Abbas Dehghan
    • , Tim D. Spector
    • , Josée Dupuis
    • , Marie-France Hivert
    • , Jerome I. Rotter
    • , James B. Meigs
    • , James S. Pankow
    • , Joyce B. J. van Meurs
    • , Aaron Isaacs
    • , Dorret I. Boomsma
    • , Jordana T. Bell
    • , Ayşe Demirkan
    •  & Cornelia M. van Duijn

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