Question

Deficiency of this mitochondrial enzyme impairs heme synthesi

Answer 1

Defects in the availability of heme substrates or the catalytic activity of the terminal enzyme in heme biosynthesis, ferrochelatase (Fech), impair heme synthesis, and thus cause human congenital anemias.

The loss of Atpif1 (ATPase inhibitory factor 1) impairs hemoglobin synthesis in zebrafish, mouse, and human hematopoietic models as a consequence of diminished Fech activity, and elevated mitochondrial pH.

Atpif1 deficiency reduces the efficiency of vertebrate Fech to synthesize heme, resulting in anemia.

The novel mechanism of Atpif1 as a regulator of heme synthesis advances the understanding of mitochondrial heme homeostasis and red blood cell development. A deficiency of Atpif1 may contribute to important human diseases, such as congenital sideroblastic anemias and mitochondriopathies