**Core Concept**
Meyer's-Kouwenaar syndrome is a rare genetic disorder characterized by an abnormality of the mitochondrial genome, specifically a deletion in the mitochondrial DNA. This deletion affects the respiratory chain complex I, leading to impaired oxidative phosphorylation and mitochondrial dysfunction.
**Why the Correct Answer is Right**
The deletion in the mitochondrial DNA disrupts the expression of the NADH dehydrogenase subunits, resulting in decreased activity of complex I. This impairment leads to a reduction in the production of ATP, causing a range of clinical manifestations, including myopathy, cardiomyopathy, and endocrinopathies. The syndrome is named after the Dutch physicians Meyer and Kouwenaar, who first described the condition in the 1960s.
**Why Each Wrong Option is Incorrect**
**Option A:** This option may be tempting, but it is actually a different condition altogether, characterized by a different genetic mutation. It is not related to Meyer's-Kouwenaar syndrome.
**Option B:** This option is incorrect because it refers to a different syndrome with distinct clinical features and genetic underpinnings.
**Option C:** This option is also incorrect, as it describes a different condition with a different pathophysiology.
**Clinical Pearl / High-Yield Fact**
Meyer's-Kouwenaar syndrome is a rare but important condition that highlights the importance of mitochondrial function in maintaining cellular energy homeostasis. It serves as a reminder of the complex interplay between nuclear and mitochondrial DNA in determining cellular function.
**Correct Answer:** D.
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.