Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases

Abstract

Small heat shock proteins are molecular chaperones that exert diverse cellular functions. To date, mutations in the coding regions of HSPB1 (Hsp27) and HSPB8 (Hsp22) were reported to cause distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. Here we provide an update on the molecular genetics and biology of small heat shock protein mutations in neuromuscular diseases.

Keywords: amyotrophic lateral sclerosis; genetics; hereditary motor and sensory neuropathies; myopathy; neurodegeneration.