DMD Flashcard 2 Review

Front

What is a mutation?

Back

A mutation is a change in the DNA sequence that can lead to changes in the structure and function of proteins.

Front

What is a deletion mutation?

Back

A deletion mutation occurs when one or more nucleotides are removed from the DNA sequence.

Front

What is a substitution mutation?

Back

A substitution mutation occurs when one nucleotide is replaced by another in the DNA sequence.

Front

What is a carrier in genetics?

Back

A carrier is an individual who has one copy of a mutated gene but does not exhibit symptoms of the disorder.

Front

What is Duchenne Muscular Dystrophy (DMD)?

Back

DMD is a genetic disorder characterized by progressive muscle degeneration and weakness due to the absence of dystrophin.

Front

What is the role of dystrophin in muscle cells?

Back

Dystrophin connects the cytoskeleton of muscle cells to the extracellular matrix, helping to maintain cell integrity during muscle contraction.

Front

What is a muscle fiber?

Back

A muscle fiber is a single muscle cell that is capable of contraction.

Front

What is the function of enzymes?

Back

Enzymes are proteins that act as catalysts to speed up chemical reactions in the body.

Front

What are myofibrils?

Back

Myofibrils are long, thread-like structures within muscle fibers that contain the contractile proteins actin and myosin.

Front

What is the significance of sarcomeres?

Back

Sarcomeres are the basic functional units of muscle contraction, composed of actin and myosin filaments.