AIIMS Raipur NO - 201…: A female carries an autosomal recessive mitochondrial disorder. Which of the following systems are most likel…

AIIMS Raipur NO - 2019 (Shift-2)

Pathology & Genetics

Medium

Appeared in: AIIMS Raipur NO - 2019 (Shift-2)

Explanation

Mitochondrial disorders result from the failure of mitochondria to produce enough energy (ATP) for the body to function.
Tissues and organs with the highest energy demands are the most susceptible to damage from this energy deficit.
The nervous system (neurogenic) and skeletal muscles have exceptionally high and constant energy requirements, making them the most commonly and severely affected systems.
Classic presentations involve a combination of myopathy (muscle weakness) and encephalopathy (brain dysfunction), along with other neurological symptoms like seizures or ataxia.

Option A: The immune system does not have the same high, constant energy demand as muscle or nerve tissue and is not a primary system affected by mitochondrial energy failure.
Option B: While both the cardiac and skeletal systems are commonly affected due to their high energy needs, this option omits the central nervous system. Neurological involvement is a defining characteristic of many of the most well-known mitochondrial syndromes (e.g., MELAS, MERRF, Leigh syndrome).
Option D: This option is incorrect because the immune system is not a primary target of mitochondrial dysfunction. While the heart is affected, the pairing with the immune system is inaccurate.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Pathophysiology of mitochondrial disorders and the primary organ systems affected as background academic context rather than a clinical decision trigger.
Nursing care for patients with mitochondrial disease is supportive and focuses on managing symptoms, conserving patient energy, and ensuring safety (e.g., seizure precautions, fall risk assessment).
Nutritional support is key, often involving specific vitamin and co-factor 'cocktails' (like Coenzyme Q10, riboflavin) and avoiding periods of fasting which can trigger metabolic crises.
Genetic counseling is crucial for families, as these disorders have complex inheritance patterns (mitochondrial, autosomal recessive/dominant).

How to Approach the Question

First, identify the core concept of the question, which is 'mitochondrial disorder'.
Recall the primary function of mitochondria, which is to generate ATP, the main energy currency of the cell.
Logically deduce that organ systems with the highest energy requirements will be the most affected when energy production fails.
Mentally list the body's high-energy-demand tissues: brain, nerves (neurogenic), muscles (skeletal and cardiac), kidneys, and eyes.
Evaluate the given options to see which pair best represents these high-demand systems.
Eliminate options containing the 'immune system,' as it's not a primary target. Compare the remaining options to select the most comprehensive and classic combination, which is the nervous system and skeletal muscle.

Concept Tested & Keywords

Concept Tested: Pathophysiology of mitochondrial disorders and the primary organ systems affected.
Stem keywords: autosomal recessive, mitochondrial disorder, systems affected
Lead-in keywords: most likely
Clinical cues: Age/sex group narrows the expected diagnosis, intervention, or normal reference range.

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E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 1233-1235