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Date Posted: 21:58:06 09/02/01 Sun
Author: Daniel Darvish, MD
Subject: Re: HIBM gene discovered
In reply to: Kooroshe Bozorg 's message, "HIBM gene discovered" on 01:22:58 08/28/01 Tue

Dear Kourosh,
Actually, the gene (UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE / N-ACETYL MANNOSAMINE 6-KINASE) with gene symbol "GNE" was cloned by German Scientists a few years ago. The genetic mistake in HIBM patients was found to be on this gene. Findings of this kind is commonplace in todays medical and research technology. If you notice, in the same issue of Nature Genetics, the gene for a much more horrible disorder, Rigid Spine Syndrome (RSMD1), which is also common in the middle east, was found to be SEPN1, but did not get as much media attention. Finding the gene for RSMD1 was accomplished in only 1.5 years with much fewer research samples. Additionally, the genomic region surrounding SEPN1 is not nearly as clarified as the genomic region surrounding GEN! Moreover, to publish a finding in Nature Genetics usually takes about 8-12 months after the initial discovery, which means the scientists knew about this late last year. Ethically, they should have shared this information with other scientists interested to work on this disorder or the GNE gene, but they opted to wait until the public distribution of the journal before sharing any of this information with other scientists in the field, which is shamefull. It is safe to say that their action pushed the discovery of an effective treatment about one year behind!

The real good news is that it is an ENZYME. Typically, disorders caused by a defect in an enzyme (specially adult onset disorders) have been one of the easiest to prevent or treat. God is watching out for us!!

Now, the real work begins, which is more hopefull than ever before. Interestingly, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE and N-ACETYL MANNOSAMINE 6-KINASE have been known to exist since 1955, and there is scientific literature appearing in medical databases 30 years ago:

Kikuchi K, Tsuiki S. Purification and properties of UDP-N-acetylglucosamine 2'-epimerase from rat liver. Biochim Biophys Acta. 1973 Nov 15;327(1):193-206. PMID: 4770741 [PubMed - indexed for MEDLINE]

Banerjee S, Ghosh S. Purification and properties of N-acetylmannosamine kinase from Salmonella typhimurium. Eur J Biochem. 1969 Mar;8(2):200-6. PMID: 4889177 [PubMed - indexed for MEDLINE]

Is is a shame that more scientists were not interested in this disorder, otherwise, we may have known the gene many years ago, and we may have had an effective treatment for it by now. THE TECHNOLOGY TO FIND A TREATMENT HAS BEEN AVAILABLE FOR YEARS! It is important to realize that this is the start of work, and research funding is needed now more than ever before.

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