Q. Consider the following statements regarding the Friedreich’s Ataxia:
1.It is an inherited neurodegenerative disorder caused primarily by mutations in the FXN gene, leading to reduced production of the mitochondrial protein frataxin.
2.The disorder is inherited in an autosomal dominant manner and primarily affects the peripheral nervous system without significant involvement of the heart or skeletal system.
Which of the statements given above is/are correct?
Answer: A
Notes:
Explanation: 1 only
Statement 1 is correct: Friedreich’s Ataxia (FA) is a rare inherited neurodegenerative disease associated with mutations in the FXN gene, usually involving an expansion of the GAA trinucleotide repeat. This results in reduced frataxin, a mitochondrial protein important for cellular energy metabolism and iron-sulfur cluster formation.
Statement 2 is incorrect: Friedreich’s Ataxia is inherited in an autosomal recessive, not dominant, manner. It can affect multiple systems, including the central and peripheral nervous systems, heart and musculoskeletal system.
Source: TH
