Question

What was Nicole’s diagnosis? what gene mutation is probably involved

Answer 1

Nicole was as diagnosed with Leigh Syndrome (LS). Leigh syndrome is said to be “a severe neurological disorder that is characterized by the degeneration of the central nervous system and is associated with a nuclear mutation in the SURF1 gene”. Which leads to a defect in a protein found in the mitochondria. It affects a protein normally found in cellular organelles, most likely the Mitochondria organelle which is involved in energy production. The aforesaid syndrome is passed down through autosomal recessive conditions. In the case of Kenneth and Vicki (Nicole’s parents), both of them may have working and nonworking copies of the gene and unfortunately, both of them passed down the nonworking gene to Nicole.