What causes Bethlem myopathy?

What causes Bethlem myopathy?

Bethlem myopathy is caused by mutations (changes) in the COL6A1, COL6A2, or COL6A3 genes . These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in the muscles, particularly skeletal muscles.

What is Fukuyama disease?

Fukuyama congenital muscular dystrophy affects the skeletal muscles , which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia).

Is Bethlem myopathy muscular dystrophy?

Bethlem myopathy, named after the Dutch doctor who first described it in 1976, is a rare and progressive form of muscular dystrophy. The condition mainly affects skeletal muscles and, to an extent, connective tissues.

Where is type 6 collagen found?

Summary. Type VI collagen is a unique beaded filament collagen. It is found in the interface between the basement membrane and interstitial matrix, where it forms a unique microfibrillar network.

How many people have Ullrich muscular dystrophy?

Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals.

Who affects DMD?

Duchenne muscular dystrophy mostly affects boys and occurs in one in 3,500 to 5,000 newborns. There is no higher risk for any ethnic group. Children affected by DMD may have some degree of cognitive problems, yet some have average or even higher-than-average intelligence.

What are the signs and symptoms of colon cancer?

Signs and symptoms of colon cancer include: A persistent change in your bowel habits, including diarrhea or constipation or a change in the consistency of your stool. Rectal bleeding or blood in your stool. Persistent abdominal discomfort, such as cramps, gas or pain. A feeling that your bowel doesn’t empty completely.

What does the COL6A1 gene do?

The COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A1 gene is the alpha (α)1 (VI) chain of type VI collagen.

How does acetylation activated COL6A1 promote osteosarcoma lung metastasis?

H3K27 acetylation activated-COL6A1 promotes osteosarcoma lung metastasis by repressing STAT1 and activating pulmonary cancer-associated fibroblasts. Theranostics 2021; 11 (3):1473-1492. doi:10.7150/thno.51245.

What are the different types of colon cancer syndromes?

The most common forms of inherited colon cancer syndromes are: Hereditary nonpolyposis colorectal cancer (HNPCC). HNPCC, also called Lynch syndrome, increases the risk of colon cancer and other cancers. People with HNPCC tend to develop colon cancer before age 50. Familial adenomatous polyposis (FAP).