The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps).
Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia.
Skeletal and heart muscle owe their function as stable biological machines to the outstanding accuracy with which their sarcomeres are assembled.
Heart failure and arrhythmia conditions are often considered as separate disorders, but genetic testing suggests there is much more overlap of these disorders than previously appreciated.
Stephen Greenspan and Laura Zah were devastated when they learned their son Alexander had a rare genetic mutation, which causes a deadly neuromuscular disease with no known treatment or cure.
Heart muscle cells contain filament-like proteins that should have the same precise length, so that they can perfectly synchronize.
One could say that mitochondria, the energy-producing organelles inside every human cell, dance to their own beat.
Scientists have known for a decade that cells that fuse with others to perform their essential functions - such as muscle cells that join together to make fibers - form long projections that invade the territory of their fusion partners.
According to a researcher from Hokkaido University and collaborators from Japan-based Sapporo Medical University, exercise can boost strength in muscle-degenerating disorders only when aging occurs in a certain type of muscle cell.