Question

Individuals producing an abnormal form of the extracellular matrix protein, fibrillin, is a result of ______.

Answer 1

Answer:

Indivisuals with producing an abnormal form of extracellular protein fibrillin are suffering from Marfan syndrome ehich is caused by genetic mutation in the FBN1 gene.

Explanation:

Gene mutations in FBN1 gene results in the production of an abnormal extracellular matrix fibrillin-1 protein that cannot function properly. These gene mutations basically reduce the amount of fibrillin-1 produced by the cell, alter the structure of fibrillin-1, or causes the impairment of the transport of fibrillin-1 out of the cell.

As a result, protein is poorly incorporated into extracellular matrix. Hence, indivisuals with Marfan syndrome present following symptoms

Tall stature.

Disproportionately long arms, legs and fingers.

Sternum either protrudes outward or dips inward.

Arched palate and crowded teeth.

Heart murmurs.

Extreme nearsightedness.