Inherited enzyme defects and MS? Any research into this?
Posted: Wed Sep 28, 2005 3:03 pm
In my searching the MS literature, I sometimes branch out and look at what is being done in other diseases that have some characteristics in common with MS.
There has been a lot of recent research in various inherited demyelinating diseases. In particular, there was an article in USA Today this week about an inherited disease called adrenoleukodystrophy, of ALD, which is an X-linked recessive disease impacting boys, because they only have one X chromosome. The gene is a defect in fatty acid metabolism, so the levels of very long chain fatty acids accumulate and cause toxic effects. There is also an inflammatory component to this disease, and I have read some abstracts that indicate the CNS lesions have some similarity to MS. However, the women who carry the gene and pass it on to their sons sometimes develop neurological problems in their 30s and 40s even though they have one good gene and one bad gene. Apparently a blood screen has been developed that measures the serum levels of very long chain fatty acids in both cases and carriers - they are elevated in both. This screen can also identify other genetic diseases that result in this elevation.
Now I am not suggesting ALD is directly related to MS, but my question is, why isn't there more research into possible biochemical defects in MS cases? I am thinking that there have been assays developed in recent years to detect metabolic abnormalities in people with other demyelinating diseases, and in some cases the carrier parent of an affected child has been found to have a reduced enzyme activity, even though the parent appears normal. Although some of these tests are not clinically available, many are, and they are not expensive, being used for routine screening of newborn babies, because in some cases dietary interventions can ward off the disease. I haven't seen where MS patients have been systematically evaluated for biochemical defects with the assays that are available. Many of these recessive leukodystrophies and other metabolic diseases that impact the CNS and immune system are (thankfully) very rare, but being the carrier for a rare recessive disease is much more common, and maybe, like in the case of the ALD carriers, having one good gene and one bad one might not be so innocuous as previously thought when it comes to being a carrier and being hit with some environmental trigger or having some other gene. Diet might help compensate for a partially defective enzyme activity which might explain why diet might help some people with MS.
Food for thought,
LisaBee
There has been a lot of recent research in various inherited demyelinating diseases. In particular, there was an article in USA Today this week about an inherited disease called adrenoleukodystrophy, of ALD, which is an X-linked recessive disease impacting boys, because they only have one X chromosome. The gene is a defect in fatty acid metabolism, so the levels of very long chain fatty acids accumulate and cause toxic effects. There is also an inflammatory component to this disease, and I have read some abstracts that indicate the CNS lesions have some similarity to MS. However, the women who carry the gene and pass it on to their sons sometimes develop neurological problems in their 30s and 40s even though they have one good gene and one bad gene. Apparently a blood screen has been developed that measures the serum levels of very long chain fatty acids in both cases and carriers - they are elevated in both. This screen can also identify other genetic diseases that result in this elevation.
Now I am not suggesting ALD is directly related to MS, but my question is, why isn't there more research into possible biochemical defects in MS cases? I am thinking that there have been assays developed in recent years to detect metabolic abnormalities in people with other demyelinating diseases, and in some cases the carrier parent of an affected child has been found to have a reduced enzyme activity, even though the parent appears normal. Although some of these tests are not clinically available, many are, and they are not expensive, being used for routine screening of newborn babies, because in some cases dietary interventions can ward off the disease. I haven't seen where MS patients have been systematically evaluated for biochemical defects with the assays that are available. Many of these recessive leukodystrophies and other metabolic diseases that impact the CNS and immune system are (thankfully) very rare, but being the carrier for a rare recessive disease is much more common, and maybe, like in the case of the ALD carriers, having one good gene and one bad one might not be so innocuous as previously thought when it comes to being a carrier and being hit with some environmental trigger or having some other gene. Diet might help compensate for a partially defective enzyme activity which might explain why diet might help some people with MS.
Food for thought,
LisaBee