title: Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy.
abstract: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypertriglyceridemia, and fat liver. The serum leptin is usually very low, and serum insulin, as well as HOMAIR(homeostasis model assessment), is very high and correlated positively with bone mineral density (BMD). Despite deficiency/insufficiency of vitamin D, low body mass index, low daily calcium intake, physical inactivity, and menarche at a later age, BSCL patients usually have normal or even high BMD. We hypothesize that low leptin and high insulin may play a role in this outcome. Understanding the potential pathophysiological mechanism of these bone abnormalities will help to clarify the effects of extreme insulin resistance in the bone.
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil. Electronic address: josivanlima@gmail.com.
authors.forename: Josivan Gomes
authors.initials: JG
authors.lastname: Lima
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
authors.forename: Natalia Nobrega
authors.initials: NN
authors.lastname: Lima
authors.affiliation: Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
authors.forename: Lucia Helena C
authors.initials: LH
authors.lastname: Nobrega
authors.affiliation: Instituto de Medicina Tropical do Rio Grande do Norte, Natal, RN, Brazil; Departamento de Bioquímica, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil; Institute of Science and Technology of Tropical Diseases, INCT-DT, Brazil.
authors.forename: Selma Maria B
authors.initials: SM
authors.lastname: Jeronimo
mesh_terms: D000273:Adipose Tissue; D015992:Body Mass Index; D015519:Bone Density; D001842:Bone and Bones / Q000378:metabolism*; D006706:Homeostasis; D006801:Humans; D006946:Hyperinsulinism / Q000378:metabolism; D007328:Insulin / Q000378:metabolism*; D007333:Insulin Resistance; D020738:Leptin / Q000097:blood / Q000378:metabolism; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis* / Q000473:pathology; D009154:Mutation; D014807:Vitamin D / Q000378:metabolism
chemical_list: D007328:Insulin; D020738:Leptin; D014807:Vitamin D
keywords: Bone mass; Density; Insulin; Leptin; Lipodystrophy