Which disorder results from mutations affecting nuclear lamina proteins?

A Hutchinson-Gilford Progeria Syndrome

B Ehlers-Danlos Syndrome

C Marfan Syndrome

D Osteogenesis Imperfecta

Solution

Correct Answer: Option A

The correct answer is Hutchinson-Gilford Progeria Syndrome.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by premature aging. It results from mutations in the gene encoding lamin A, a critical protein component of the nuclear lamina. The nuclear lamina provides structural support to the nucleus and plays a role in DNA replication and transcription regulation. Mutations in lamin A lead to the production of an abnormal protein called progerin, which disrupts the integrity of the nuclear envelope, causing the cell abnormalities seen in progeria.

In contrast, the other disorders listed:
- Ehlers-Danlos Syndrome: Primarily involves mutations in genes encoding collagen or collagen-processing enzymes, leading to connective tissue defects.
- Marfan Syndrome: Caused by mutations in the fibrillin-1 gene, affecting connective tissue elasticity.
- Osteogenesis Imperfecta: Results from defects in type I collagen, leading to brittle bones.

Reference: Robbins Basic Pathology, 10th Edition, Chapter 5: Genetic Disorders / Page 180

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