Rare disease
Medical condition
GFER syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, more cases were discovered. In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss, etc.
Cause.
The disease is inherited in an autosomal recessive pattern and is caused by a mutation in the nuclear GFER gene (also called ALR; Erv1 homolog in yeast).
Mechanism.
The most major role of GFER is inside the mitochondrial intermembrane space (mitochondrial IMS) (it is imported into the mitochondria from the cytosol). If we describe the normal pathway as follows:
Otherwise, when the GFER does not take the electron:
GFER has a few more roles which may be affected, with dependence on the mutation type and location. These include:
Treatment.
Currently there is no curative treatment.
References.
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