Credited to a combination of
genetic and nongenetic aspects, Parkinson’s disease has no completely effective
therapy or cure. Parkinson’s disease is reasonably heritable, but the mechanism
of this inheritance is not well understood. While genetic forms of the disease occur,
random forms are far more common. A team of scientists managed by The New York
Stem Cell Foundation (NYSCF) Research Institution successfully produced a human
stem cell disease model of Parkinson’s disease in a dish. Studying a pair of
identical twins, one affected and one unaffected with Parkinson’s disease,
another unrelated Parkinson’s patient, and four healthy control subjects, the
scientists were able to notice crucial features of the disease in the laboratory,
specifically variances in the patients’ neurons’ capability to create dopamine,
the molecule that is lacking in Parkinson’s disease. In addition, the
scientists also acknowledged a possible approach for developing innovative
therapies for Parkinson’s disease.
DNA mutations resulting in the
production of a specific enzyme termed glucocerebrosidase (GBA) have been connected
to a five-fold greater risk of developing Parkinson’s disease; conversely, only
30% of individuals with this mutation have been exposed to developing Parkinson’s
disease by the age of 80. This discordance proposes that several factors
contribute to the development of Parkinson’s disease as well as both genetic
and non-genetic factors.
In this study, a pair of identical
twins, both with GBA mutation, delivered a unique opportunity to evaluate and separate
the genetic and non-genetic influences to the development of Parkinson’s
disease in one twin, and the absence of disease in the other twin. The scientists
made induced pluripotent stem (iPS) cells from skin samples from both twins to produce
a cellular model of Parkinson’s in a dish, reiterating crucial features of the
disease, specifically the growth of alpha-synuclein and dopamine absence.
Upon investigating the cell models,
the scientists found that the dopamine-producing neurons from both twins had reduced
GBA enzymatic activity, raised alpha-synuclein protein levels, and a reduced ability
to synthesize and release dopamine. In contrast to his unaffected brother, the
neurons generated from the affected twin produced less dopamine, had higher
levels of an enzyme called monoamine oxidase B (MAO-B), and deprived capability
to connect with each other. Treating the neurons with molecules that lowered
the activity of MAO-B together with overexpressed GBA helped normalize
alpha-synuclein and dopamine levels in the cell models. This proposed that a
combination therapy for the affected twin may be probable by simultaneously targeting
these two enzymes.
Although this is an innovating
study, the genetic and stem cell analysis identified an avenue for a
potentially useful combination therapy for the twin affected by Parkinson’s
disease. This study could be useful for other Parkinson’s patients. To me, the
this research and cellular analysis is useful to further clues to all cases of
genetic and sporadic Parkinson’s disease and other neurological disorders.
Article- http://www.sciencedaily.com/releases/2014/11/141106132208.htm
Parkinson's disease is a very difficult disease to cope with because its accepted world-wide by scientist that there is almost no cure and very little effect through therapy. However, through this experiment, we can see specific neurons revealing dopamine levels. This is ideal because in this disease, dopamine is lacking. This great experiment can now lead to some therapeutic ideas. Great Article!
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