LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

ABSTRACT:

Context

Type 2 familial partial lipodystrophy (FPLD) is an autosomal-dominant lamin A/C-related disease associated with exercise intolerance, muscular pain, and insulin resistance. The symptoms may all be explained by defective metabolism; however, metabolism at the tissue level has not been investigated.

Objective

We hypothesized that in FPLD, insulin resistance and impaired aerobic exercise capacity are explained by a common underlying mechanism, presumably a muscular metabolic defect.

Patients and methods

Carbohydrate and lipid metabolism was studied on 10 FPLD patients, one patient with limb-girdle muscular dystrophy (LGMD1B, a different lamin A/C disease), and 10 healthy control subjects before and during an oral glucose tolerance test by indirect calorimetry and

SUBMITTER: Boschmann M 

PROVIDER: S-EPMC2853996 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature