Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases

Area of Science:

• Biochemistry
• Metabolic Regulation
• Neuromuscular Disorders

Background:

• Human fibroblast growth factor 21 (FGF21) regulates lipid and glucose metabolism.
• FGF21 is expressed in skeletal muscle and may serve as a biomarker for mitochondrial and neuromuscular disorders.

Purpose of the Study:

• To investigate serum FGF21 levels in patients with mitochondrial diseases and myotonic dystrophy type 1 (DM1).
• To determine the association between FGF21 levels and disease characteristics, including insulin resistance.

Main Methods:

• Serum FGF21 levels were measured in 71 individuals, including 30 patients with mitochondrial disease, 16 with DM1, 5 with facioscapulohumeral dystrophy, and 20 healthy controls.
• Statistical analyses were performed to compare FGF21 levels across groups and correlate them with clinical parameters.

Main Results:

• Serum FGF21 levels were significantly elevated in patients with progressive external ophthalmoplegia and DM1 compared to other groups.
• In mitochondrial disorders, FGF21 levels correlated with the presence of ragged blue fibers.
• Significant insulin resistance was observed in DM1 patients, potentially contributing to elevated FGF21.

Conclusions:

• Elevated serum FGF21 is associated with specific mitochondrial diseases and DM1.
• Insulin resistance may play a role in the elevation of FGF21 in affected individuals.