Ehlers-Danlos Syndrome: Genetic Basis
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting connective tissues throughout the body. These tissues provide strength and elasticity to skin, joints, blood vessels, and organs.
Understanding the Genetic Defect
The underlying cause of EDS is a genetic mutation that affects the synthesis, processing, or structure of collagen. Collagen is a crucial structural protein that forms the framework of connective tissues.
Connecting Collagen to Protein Maturation
The process of creating functional collagen involves multiple steps, including synthesis, modification (like hydroxylation), assembly into fibrils, and secretion. These steps collectively fall under protein maturation.
- EDS involves defects in specific enzymes or structural components required for collagen processing.
- These defects directly impair how the collagen protein matures and functions correctly.
- Problems with lipid, carbohydrate, or glycogen maturation are not the primary cause of EDS.
Therefore, Ehlers-Danlos syndrome exemplifies a genetic defect in protein maturation, specifically related to collagen.
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Important Questions from Miscellaneous
- Which of the following scheduler/schedulers is/are also called CPU scheduler ?
(A). Short Term Scheduler
(B). Long Term Scheduler
(C). Medium Term Scheduler
(D). Asymmetric Scheduler
Choose the correct answer from the options given below: - A situation where two or more processes are blocked, waiting for resources held by each other is called:
- External fragmentation occurs ________.
- Which disk scheduling algorithm looks for the track closest to the current head position?
- Which CPU scheduling algorithm prefers the process with the shortest burst time?
