Archives
IMPORTANT! Changes at EPPREF
The Channing Lab has expanded, and, as a result, Dr. Roth’s lab and the EPPREF office have moved to a building next door to their old location. As a result, our telephone number and e-mail address have changed — each by one digit. The phone number is now 617-525-8249, and the e-mail address is now mmmathroth@rics.bwh.harvard.edu. Our web address (www.brighamandwomens.org/eppref ) and mailing address (Channing Lab., 181 Longwood Avenue, Boston, MA 02115) remain the same.
Pen Pal Requests
Two Moms with EPP daughters would like to hear from other Moms. Patty has an 8-year old daughter: her address is martypat@netsync.net. Laurianne has a 5-year old girl: her address is ybdhooper@aol.com.
The Inheritance of EPP
As we mentioned in an earlier issue of EPPREF NEWS, EPP is inherited as an autosomal dominant trait with low clinical penetrance. Recent studies have found that to get symptomatic EPP, patients have to have changes in both copies of the ferrochelatase gene. Remember, each cell in our bodies has a “diploid” number of chromosomes — that is two copies of each of the “autosomal” chromosomes (hence two copies of each gene they contain) plus either two copies of the “x” chromosome, which makes a female, or one copy of the “X” chromosome and one copy of the “y” chromosome, which makes a male. The changes needed to get EPP are as follows: one copy of the two genes for ferrochelatase has to have a mutation and the second copy of the gene has to have a change in it which causes low expression of the gene. People who inherit either one completely normal and one low expression gene or two low expression genes, or one completely normal and one mutant gene don’t get EPP. People who inherit two mutant ferrochelatase genes also get EPP, but this is very rare. At present, to our knowledge no commercial blood labs are set up to routinely test for the various ferrochelatase mutations or the low-expression change, but we’ll inform you if we ever hear of any which do.
That’s all the news — we end with our usual reminder — if you want to keep receiving print copies of EPPREF NEWS, send us your new address if you move.
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