The protein ferritin functions to sequester and release iron, acting as an iron buffering system in cells. Iron is essential to brain function in oxygen transport and cellular metabolism for example. However, careful control of iron is important as increased brain iron levels catalyze the formation of free radicals that create oxidative molecules via the Fenton Reaction. These oxidative molecules can cause oxidative brain damage. Iron that is bound to ferritin in nonreactive. Fenton Reaction (1) Fe2+ + H2O2 → Fe3+ + HO• + OH− (2) Fe3+ + H2O2 → Fe2+ + HOO• + H+ The ferritin protein is made up of heavy chain (H) and light chain (L) subunits. In<unk> , the gene encoding the light chain is mutated. Several different mutation variations have led to diagnosis as<unk> ; all of these mutations occur in the light chain. A mutated light chain is believed to inhibit ferritin's ability to effectively sequester and hold iron. Without control of iron, it is free to cause oxidative brain damage as described above. The concentration of iron in a healthy brain varies greatly from region to region. The specific regions of the brain that are associated with motor functions appear to have larger accumulations of iron than non-motor-related regions. This observation of varying iron concentrations is a possible explanation for the correlation between movement disorders and the iron imbalance within the central nervous system.
Neuroferritinopathy
Aceruloplasminemia
Tauopathy
Synucleinopathy
Homeopathy
Sandhoff disease
Mitochondrial myopathy
Mitochondrial disease