Refining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome

Author(s)

Moreira, Mariana Lima Mascarenhas ; de Araujo, Iana Mizumukai ; Fukada, Sandra Yasuyo ; Venturini, Lucas Gabriel R. ; Guidorizzi, Natalia Rossin ; Garrido, Carlos Ernesto ; Rosen, Clifford J. ; de Paula, Francisco Jose Albuquerque

• Document type: Journal article
• Source: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; v. 24, n. 17, p. 17-pg., 2023-09-01.

Abstract

Familial partial lipodystrophies (FPLD) are rare diseases characterized by selective loss of subcutaneous adipose tissue at different sites. This cross-sectional observational study aimed to estimate adipose tissue in the bone marrow (BMAT), intra (IMCL) and extra-myocyte lipids (EMCL), and define the bone phenotype in the context of FPLD2/Dunnigan syndrome (DS). The subjects comprised 23 controls (C) and 18 DS patients, matched by age, weight and height. Blood samples, dual-energy X-ray absorptiometry for bone mineral density (BMD) and trabecular bone score (TBS) and 1H-spectroscopy using magnetic resonance to estimate BMAT in the lumbar spine, IMCL, EMCL and osteoclastogenesis were assessed. The prevalence of diabetes mellitus was 78% in DS patients. Glucose, HbA1c, triglycerides, insulin and HOMA-IR levels were elevated in DS, whereas HDLc, 25(OH)D, PTH and osteocalcin levels were reduced. BMD was similar between groups at all sites, except 1/3 radius, which was lower in DS group. TBS was reduced in DS. DS presented increased osteoclastogenesis and elevated BMAT, with greater saturation levels and higher IMCL than the C group. HOMA-IR and EMCL were negatively associated with TBS; osteocalcin and EMCL were correlated negatively with BMD. This study contributes to refining the estimation of adipose tissue in DS by showing increased adiposity in the lumbar spine and muscle tissue. DXA detected lower TBS and BMD in the 1/3 radius, suggesting impairment in bone quality and that bone mass is mainly affected in the cortical bone. (AU)

• FAPESP's process: 18/18071-5 - Hydroelectrolytic and energy homeostasis: from cellular metabolism to endocrine systems in different phases of development
• Grantee: Lucila Leico Kagohara Elias
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 21/03152-2 - Interaction between fat, muscle, and bone tissues in anorexia nervosa
• Grantee: Iana Mizumukai de Araujo
• Support Opportunities: Scholarships in Brazil - Post-Doctoral