What does the CAV3 gene do?

What does the CAV3 gene do?

The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane.

What is rippling muscle disease?

Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs.

What is the role of caveolin?

The caveolin proteins (caveolin-1, -2, and -3) serve as the structural components of caveolae, while also functioning as scaffolding proteins, capable of recruiting numerous signaling molecules to caveolae, as well as regulating their activity.

Does cardiac muscle have caveolae?

A subset of lipid rafts present in cardiac muscle are caveolae which are morphologically distinct structures that will be the focus of this review.

What is caveolae in biology?

Definition. Caveolae are 50–80 nm cup-shaped pits in the plasma membrane of many vertebrate cells (Fig. 2). Caveolae are extremely abundant in adipocytes, skeletal muscle cells, endothelia and fibroblasts but undetectable in some other cell types.

What causes skin to ripple?

Anatomy of cellulite As fat cells increase, they push up against the skin. Tough, long connective cords pull down. This creates an uneven surface or dimpling, often referred to as cellulite. Cellulite is a very common, harmless skin condition that causes lumpy, dimpled flesh on the thighs, hips, buttocks and abdomen.

Is there a cure for muscle disease?

Although there’s no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength.

What is Caveolae mediated endocytosis?

Caveolae-mediated endocytosis involves nanoparticles being trafficked to caveolae invaginations on the cell membrane which internalise the particle. Caveolae-mediated endocytosis appears to be a slower process than clathrin-mediated endocytosis although both processes result in similar size endosomes.

Where are caveolae found?

plasma membrane
Caveolae are found in the plasma membrane of a variety of cell types and tissues, in fact most, but not all, cell types contain caveolae [5–8].

What are the signs and symptoms of eosinophilic fasciitis?

The usual initial symptoms of eosinophilic fasciitis are pain, swelling, and inflammation of the skin, particularly over the inside of the arms and the front of the legs. The skin of the face, chest, and abdomen may occasionally be affected. Typically, the fingers and toes are not affected.

How common is rippling muscle disease?

Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. Symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely.

What is the role of lipid rafts?

Lipid rafts, also known as microdomains, are important components of cell membranes and are enriched in cholesterol, glycophospholipids and receptors. They are involved in various essential cellular processes, including endocytosis, exocytosis and cellular signaling.

What is Lipid raft and why it is important?

Lipid rafts are dynamic assemblies of proteins and lipids that float freely within the liquid-disordered bilayer of cellular membranes but can also cluster to form larger, ordered platforms. Rafts are receiving increasing attention as devices that regulate membrane function in eukaryotic cells.

What triggers eosinophilic fasciitis?

The exact cause of eosinophilic fasciitis is unknown (idiopathic). Researchers believe that the disorder results due to a nonspecific triggering event that causes an abnormal immune system response, specifically an abnormal allergic or inflammatory reaction.

What is the treatment for eosinophilic fasciitis?

Treatment of eosinophilic fasciitis is directed at eliminating the tissue inflammation and includes aspirin, other anti-inflammatory drugs (NSAIDs), and cortisone. Many patients will improve spontaneously. Others can be afflicted with persistent tissue and joint pain, in addition to thickening of the involved tissues.