Question

You have a friend with a young sibling who has actin-accumulation myopathy. This disorder is a result of a faulty ACTA1 gene, which makes skeletal alpha (α)-actin proteins.

The young sibling has muscle weakness, poor muscle tone, and had difficulty swallowing when it was an infant. The mutations of this gene may result in the way that ATP binds actin.

a) Why does the binding of ATP matter with the proper functioning of actin (3 pts)

b) can you find anything specifically relating to this disease that is notable?

Answer 1

A) in muscle this filaments and thich filaments involve in muscle contraction.

Thin figments are made up of actin proteins ( alpha actin monomers)

Thick filaments are made up of myosin molecules.

ATP is an important molecule required for proper functioning if muscle. Ut also required for polymerization of alpha actin monomers in to polymer or long fibers like structure of actin. So in deficiency of ATP , small actin monomers will be present which are mon functional and abnormal in structure And actin will not be able to perform its function and there is defect in muscle contraction.

B) patient with these disease has muscle weakness and poor muscle tone through out the body. Baby's will have difficulty in swallowing, head movement and crying. As babies are unable to move their head they are known as floppy babies.