A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

• Published in: Cell death & disease Vol. 12; no. 4; p. 345
• Main Authors: Hildebrand, Joanne M., Lo, Bernice, Tomei, Sara, Mattei, Valentina, Young, Samuel N., Fitzgibbon, Cheree, Murphy, James M., Fadda, Abeer
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.04.2021; Springer Nature B.V; Nature Publishing Group
• Subjects: 14/1; 45/22; 45/44; 45/70; 45/77; 631/80/82/2344; 692/163/2743/137; Antibodies; Apoptosis - genetics; Biochemistry; Biomedical and Life Sciences; Cell Biology; Cell Culture; Cell death; Cell lines; Diabetes; Diabetes mellitus; Diabetes Mellitus - genetics; Family studies; Humans; Immunology; Inflammatory diseases; Life Sciences; Mutation; Mutation - genetics; Necroptosis; Necroptosis - genetics; Necroptosis - physiology; Necrosis - genetics; Pedigree; Phosphorylation; Protein Kinases - genetics; Protein Kinases - metabolism; Receptor-Interacting Protein Serine-Threonine Kinases - metabolism

Maturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1 damaging mutation. Interestingly, this substitution was als...