Genetic
Mutation
Plays Role
in MDS
C
LEVELAND CLINIC RESEARCHERS
have discovered the relationship
between the SF3B1 gene and the
formation of ring sideroblasts
in the development of the blood cancer
myelodysplastic syndrome (MDS).
Several genetic mutations are known to
be present in MDS ��� a group of diseases
in which the bone marrow does not make
enough healthy blood cells. One type of
mutation in the SF3B1 gene is responsible
for the formation of ring sideroblasts and
contributes to the development of MDS,
according to new research from Ramon V.
Tiu, MD, associate staff physician in the
department of Translational Hematology
& Oncology Research at Taussig Cancer
Institute. The paper was published in
October in Blood.
The product of SF3B1 is important in
a normal bodily process called splicing,
whereby RNA is modified after transcription ��� the creation of a complementary
RNA copy of the DNA sequence. This
process leads to a protein product that
is important in sustaining normal
physiologic function.
When the SF3B1 gene is mutated,
splicing processes are altered and the
formation of ring sideroblasts begins.
Ring sideroblasts are an unusual collection of iron around the nucleus of
erythroid progenitors, early forms of red
blood cells. Patients who exhibit these
ring sideroblasts are diagnosed with
refractory anemia with ring sideroblasts,
a form of MDS.
���This study highlights the importance
of molecular testing in hematologic
cancers like MDS,��� says Dr. Tiu. ���We
are hopeful that this research will
lead to the development of new,
targeted therapies.��� ���
JANUARY- FEBRUARY 2013 ��� MDNEWS.COM ��� MD
News Cleveland/Akron/Canton
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