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After providing a brief background on the mutations responsible
for FD, Dr. Rubin provided a review of the laboratory studies
demonstrating that treatment of cells with tocotrienols results
in an elevation of cellular levels of IKAP. These laboratory
studies have been expanded to clinical studies and he reported
that some individuals taking tocotrienols show an improvement in
cardiac function, a reduction in the number of crises and an
increase in tear production. While all or some of these effects
are seen in many of those taking tocotrienols, some with FD are
not showing a measurable or noticeable response. In considering
this variable response, he noted that there appear to be
compounds which are detrimental to individuals with FD. Drs.
Rubin and Sylvia Anderson continue to investigate this matter
and hope to at some point provide a list of items to be avoided.
In the search for additional
compounds that many benefit individuals with FD, Rubin and
Anderson have demonstrated that epigallocatechin gallate (EGCG),
a molecule found in green tea, alters the splicing of IKAP such
that when cells derived from individuals with FD are treated
with EGCG or green tea extract, they produce more of the
functional IKAP RNA and as a result, produce more functional
IKAP protein. These laboratory studies suggest that individuals
with FD would benefit from supplementation with an EGCG-containing
green tea extract. Furthermore, treating cells derived from
individuals with FD with a combination of tocotrienol and EGCG
results in a more that additive positive effect on the level of
IKAP in these cells. These results suggest that individuals
with FD would benefit from supplementation with a combination of
tocotrienols and EGCG.
What
about the impact of EGCG on patients with FD? The few
individuals that have thus far enrolled in the EGCG
supplementation study are already taking tocotrienols and, as
such, it is hard to know the extent of the impact of the EGCG.
Parents have informed Rubin and Anderson that the EGCG is
providing their children with additional stamina and has
resulted in a further reduction in the number of crisis
experienced by the children. Would the parents have seen the
some improvements if the children were only on the tocotrienols
for the additional period of time? It is hard to know. The
only way to be certain is to take the children off of the
tocotrienols and give them only EGCG. Given the benefits of
tocotrienols, the researchers are unwilling to undertake such a
study. They refer to our mutual goal being the well-being of
the children. Rubin and Anderson believe that with the addition
of each supplement that increases IKAP levels and with the
removal of items detrimental to the FD children, the research
brings the children better health and stability. They hope that
others will also find compounds that enhance levels of IKAP. If
at some point the children are doing so well that the
introduction of additional compounds is no longer necessary,
they will consider this aspect of their work complete.
The question as to the
source of EGCG was discussed. Clearly there are numerous
sources of green tea. The issues they have been addressing are
the quality and standardization of the material that is
currently available. To allow for proper dosing, it is
preferable to have the green tea in a liquid extract form.
There are several such products available but many contain
little EGCG and some contain added ingredients that are
counter-indicated or unnecessary. Dr. Rubin has met with the
principals of a well-known company that has taken an interest in
the FD children and is in the process of making a liquid green
tea extract that meets the standards they have set. If
everything goes according to plan, the product should be
available to the FD community by the end of September. At that
time, information on how to obtain the material will be
available on the FD-Net and on this website.
Dr. Rubin concluded by
acknowledging the generous contributions of Dor Yeshorim, the
Committee for Prevention of Jewish Genetic Diseases, FD Hope,
Inc., and the Eric Alterman Foundation for F.D. Cure, which made
this work possible.
Please
email us with any questions for Dr. Rubin.
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