Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

This study examines the possibility that abnormal expression of the gene mitoferrin-1, which
codes for the protein that transports iron in the mitochondria of cells, is a contributing
factor to the phenotype in individuals with EPP.

Erythropoietic protoporphyria (EPP) is a human genetic/metabolic disorder in which
accumulation of the compound protoporphyrin causes skin sensitivity to sunlight. Some
individuals with the disorder also have mild anemia, and a few have hepatobiliary disease.
Iron is joined to protoporphyrin to form heme in the mitochondria of cells, under control of
the enzyme ferrochelatase. Defects in this process cause the accumulation of protoporphyrin,
leading to the biochemical and clinical features of EPP. Abnormalities in the ferrochelatase
gene are the major cause of the defect, but do not satisfactorily explain the severity of the
phenotype in all subjects. Mitoferrin-1 transports iron to ferrochelatase in the mitochondria
of cells for heme formation, and also transports iron for the formation of a compound that
keeps ferrochelatase active and stable. Thus, a deficiency of this iron transporter could
reduce ferrochelatase activity and contribute to the phenotype in EPP.

Inclusion Criteria:

1. Enrollment in the Longitudinal Study of the Porphyrias with a diagnosis of EPP

2. An individual or parent/guardian who is able to give written informed consent or
assent, as appropriate -

Exclusion Criteria:

1. Patient is not enrolled in the Longitudinal Study of the Porphyrias

2. Patient is under the age of 7

3. Patient is cognitively impaired

4. Patient refuses to have blood drawn for establishing lymphoblast line -