Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1

• Published in: Internal Medicine Vol. 59; no. 20; pp. 2529 - 2537
• Main Authors: Iwanishi, Masanori, Azuma, Choka, Tezuka, Yuji, Yamamoto, Yukako, Ito-Kobayashi, Jun, Washiyama, Miki, Kusakabe, Toru, Kikugawa, Shingo
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15-10-2020; Japan Science and Technology Agency
• Subjects: Adenosine Triphosphatases - genetics; Aged; Arm - diagnostic imaging; Arteriosclerosis; Atherosclerosis - genetics; Body Fat Distribution; Brain - diagnostic imaging; Brain - pathology; Case Report; Diabetes mellitus; Diabetes Mellitus, Type 2 - complications; familial partial lipodystrophy 1; Female; Gene polymorphism; Genetic Predisposition to Disease; Humans; Internal medicine; Japan; Lesions; Lipodystrophy; Lipodystrophy, Familial Partial - complications; Lipodystrophy, Familial Partial - diagnostic imaging; Lipodystrophy, Familial Partial - genetics; Magnetic Resonance Imaging; Middle Aged; Moyamoya disease; Moyamoya Disease - genetics; mysterin; mysterin mutation; p.R4810 K; partial lipodystrophy; Pedigree; Polymorphism, Genetic; Risk Factors; Subcutaneous Fat - diagnostic imaging; Ubiquitin-Protein Ligases - genetics; Whole Exome Sequencing; Japan; familial partial lipodystrophy 1; partial lipodystrophy; mysterin; moyamoya disease; mysterin mutation; p.R4810 K
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.4042-19

Mysterin, which was recently shown to play an important role in maintaining cellular fat storage, has been identified to be the susceptibility gene for moyamoya disease (MMD). We encountered some female Japanese patients with partial lipodystrophy and MMD-like vascular lesions. This prompted us to examine whether mysterin variants may be present in these patients. We identified a mysterin variant, p.R4810K in two patients with MMD-like vascular lesions, who may fit the category of familial partial lipodystrophy (FPLD) 1. Our cases suggest the possibility that p.R4810K, in addition to atherogenic risk factors, might thus play a role in the development of atherosclerotic lesions in patients with FPLD1 and p.R4810K.