High blood pressure or hypertension is a
chronic disease that is potentially fatal if left intreated. Using BP Monitor
or Sphygmomanometers can help check and measure the blood pressure which is
essential in diagnosing and treating high blood pressure.
A probe on the link between skeletal
malformation syndrome and hypertension, or high blood pressure, in some
individuals was conducted by the scientists of the Experimental and Clinical
Research Center (ECRC) back in the mid-1990s. Involving members of six families
exhibiting these traits, the study aimed to pinpoint the offeding gene behind
the mutation and disease. 20 years later, the researchers finally achieved
their goal.
A skeletal condition characterised by
unusually short fingers and toes, brachydactyly type E afflicts individuals
with this gene, but that is not their only problem. They are also stricken by
serious hypertension, which when left untreated, causes their premature deaths
by the age of 50.
"In 1994, when we began the study of
this disease and examined the largest of the affected families in Turkey for
the first time, modern DNA sequencing method did not exist yet," Dr Sylvia
Bahring, senior author of the research group said. Although the exact gene
responsible for these conditions remained elusive for the better part of the
two decades, the Max Delbruck Centre for Molecular Medicine and the Charite
Medical Faculty of Berlin recently encountered a breakthrough, managing to identify
the cause of this rare syndrome.
Realising that the patients always
displayed both the conditions, scientists tracked the origin of the physical
malformation and matched it with additional observations conducted on six
unrelated families. The team, led by Professor FriedrichC. Luft, found
different point mutations in the gene encoding phosphodiesterase-3A (PDE3A),
which was then identified as the origin of the abnormality.
The gene turned out to be the first
Mendelian (salt-resistant) hypertension form ever discovered, based more on
problems of resistance in blood vessels (as it used to be the general consensus
among researchers) rather than on issues related to salt absorption - when too
much salt in the diet has a detrimental effect on kidneys, thus driving blood
pressure up.
Up to 95% of people with high blood
pressure usually suffer from essential or primary type hypertension, which is
when no specific cause for it can be found, pointing to more general origins,
such as being overweight, smoking, high intake of salt, high alcohol
consumption or even race, gender, age or hereditary factors, as seen here. Therefore
it is not surprise that it is a widespread disease, affecting a large number of
people worldwide.
