Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as 3-methylglutaconic aciduria (MGCA7). MGCA7 is an inborn error of metabolism associated with variable neurologic deficits and an abnormally low number of immune cells called neutrophils in the blood.
Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as 3-methylglutaconic aciduria (MGCA7). MGCA7 is an inborn error of metabolism associated with variable neurologic deficits and an abnormally low number of immune cells called neutrophils in the blood.
The latter condition, known as neutropenia, can lead to increased susceptibility to infection and can also develop into leukemia, as well as early death in infants.
«SKD3 is essential to protein quality control in animal cells. It removes damaged proteins in structures or organelles inside cells called mitochondria thus maintaining the integrity of these organelles, which is vital for normal cell function,» said corresponding author Dr.
