Related Experiment Video

Updated: May 2, 2026

DNA Electroporation, Isolation and Imaging of Myofibers
07:52

DNA Electroporation, Isolation and Imaging of Myofibers

Published on: December 23, 2015

12.2K

Dysferlin at transverse tubules regulates Ca(2+) homeostasis in skeletal muscle

Jaclyn P Kerr1, Christopher W Ward2, Robert J Bloch1

  • 1Department of Physiology, University of Maryland School of Medicine Baltimore, MD, USA.

Frontiers in Physiology
|March 19, 2014
PubMed

Insights

Dysferlinopathies like Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy require treatments to slow degeneration. Maintaining calcium handling and transverse tubule function is crucial for slowing muscular degeneration in dysferlinopathy.

Area of Science:

  • Muscle physiology
  • Genetics
  • Cell biology

Background:

  • Dysferlinopathies, including Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy, are genetic disorders causing progressive muscle degeneration.
  • Current treatments focus on managing symptoms as genetic cures are unavailable.
  • Dysferlin's role in muscle membrane repair and calcium homeostasis is increasingly recognized.

Purpose of the Study:

  • To review recent evidence on dysferlin's function in muscle.
  • To highlight the importance of calcium handling in dysferlinopathy progression.
  • To emphasize dysferlin's role in maintaining transverse tubule integrity.

Main Methods:

  • Literature review of recent studies on dysferlinopathy.
  • Analysis of research on calcium handling in muscle cells.
  • Examination of studies investigating transverse tubule structure and function.

Main Results:

  • Dysferlin is essential for maintaining the structure and function of transverse tubules in striated muscle.
  • Proper calcium handling is critical for mitigating muscle degeneration in the absence of functional dysferlin.
  • Dysferlin's localization at the transverse tubule is key to its protective role.

Conclusions:

  • Targeting calcium handling pathways may offer therapeutic strategies for dysferlinopathies.
  • Maintaining transverse tubule integrity is a potential therapeutic goal for slowing disease progression.
  • Further research into dysferlin's precise mechanisms at the t-tubule is warranted for developing effective treatments.
Keywords:
calciumexcitation-contraction couplingmuscular dystrophymyopathy

More Related Videos

Author Spotlight: Functional Site-Directed Fluorometry in Native Cells to Study Skeletal Muscle Excitability12:26

Author Spotlight: Functional Site-Directed Fluorometry in Native Cells to Study Skeletal Muscle Excitability

Published on: June 2, 2023

1.7K
Assessment of Calcium Sparks in Intact Skeletal Muscle Fibers11:22

Assessment of Calcium Sparks in Intact Skeletal Muscle Fibers

Published on: February 24, 2014

14.9K

Related Concept Videos

Cross-bridge Cycle01:26

Cross-bridge Cycle

As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
108.8K
Overview of Skeletal Muscle01:15

Overview of Skeletal Muscle

Skeletal muscles are composed of a bundle of muscle fibers and are attached to bones through tendons. Each skeletal muscle fiber is a single muscle cell. The sarcolemma, the plasma membrane of a skeletal muscle cell, consists of a lipid bilayer and glycocalyx that supports muscle fibers. The sarcolemma extends into the muscle cells to form tubular structures called transverse or T-tubules. Each side of the T-tubules consists of a membrane-bound structure called the sarcoplasmic reticulum,...
12.7K
The Sarcomere01:08

The Sarcomere

A sarcomere is a microscopic segment repeating in a myofibril. The sarcomere fundamentally consists of two main myofilaments: thick filaments called myosin and thin filaments called actin. These filaments interact by sliding past each other in response to stimulus. In addition to myosin and actin, several other proteins, such as tropomyosin, troponin, titin, nebulin, myomesin, α-actinin, and dystrophin, play crucial roles in regulating, structuring, and functioning of the sarcomere.
Each...
18.2K
Smooth Muscle Contraction01:25

Smooth Muscle Contraction

Smooth muscle contraction is a complex process vital for various bodily functions, from maintaining blood vessel tension to facilitating the movement of food through the digestive tract. Unlike striated muscles, smooth muscle contraction begins more slowly and lasts longer.
The onset of contraction is triggered by an increase in calcium ions within the sarcoplasm, similar to the process in striated muscle. However, smooth muscles have a relatively smaller reservoir of the sarcoplasmic...
8.7K
Relaxation of Skeletal Muscles01:29

Relaxation of Skeletal Muscles

The period of muscle contraction primarily influences the duration of stimulation at the neuromuscular junction (NMJ), the presence of free calcium ions in the sarcoplasm, and the availability of energy or ATP to support contractions.
When an action potential reaches the axon terminal, it depolarizes the membrane and opens voltage-gated sodium channels. Sodium ions enter the cell, further depolarizing the presynaptic membrane. This depolarization causes voltage-gated calcium channels to open....
9.6K
Microscopic Anatomy of Skeletal Muscles01:13

Microscopic Anatomy of Skeletal Muscles

Skeletal muscle cells, also called muscle fibers, are distinctly elongated, multi-nucleated, slender biological units. They are packed with specialized structures designed to facilitate their primary function, which is contraction.
The muscle sarcolemma is a plasma membrane enclosing each muscle cell that conducts electrical signals called action potentials. The sarcolemma extends into the cell to form T-tubules, ensuring the neural impulses are uniformly distributed across the entire muscle...
22.5K