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Paola Andrea Parra E
Medicine Student
lll Semester
“ “ ABERRANT SPLICING SAPS THE STRENGTH OF ABERRANT SPLICING SAPS THE STRENGTH OF 'SLOW' MUSCLE FIBERS” 'SLOW' MUSCLE FIBERS”
AANDND
““A NEW GENE-EXPRESSION MECHANISM IS A A NEW GENE-EXPRESSION MECHANISM IS A MINOR THING OF MAJOR IMPORTANCE”MINOR THING OF MAJOR IMPORTANCE”
Myotonic dystrophy, the second most common form of
muscular dystrophy
Myotonic dystrophy, the second most common form of
muscular dystrophy
aberrant alternative splicing program
changes the form of an enzyme
aberrant alternative splicing program
changes the form of an enzyme
The enzyme reverts to the embryonic form
(PKM2), which changes its activity in the cell.
The enzyme reverts to the embryonic form
(PKM2), which changes its activity in the cell.
Using an antisense oligonucleotides to bind to
the precursor RNA for PKM, and thus force it in the other direction to the
embryonic form.
Using an antisense oligonucleotides to bind to
the precursor RNA for PKM, and thus force it in the other direction to the
embryonic form.
it seems that PKM2 to be pushing it in the opposite direction from what slow
fibers do
it seems that PKM2 to be pushing it in the opposite direction from what slow
fibers do
This is related to the loss of slow fibers in myotonic dystrophy.
This is related to the loss of slow fibers in myotonic dystrophy.
the CTG in the DNA is transcribed into CUG in RNA, the resulting aberrant protein is toxic and disrupts the activity of RNA factors
the CTG in the DNA is transcribed into CUG in RNA, the resulting aberrant protein is toxic and disrupts the activity of RNA factors
(MBNL1 AND CELF1), which are two RNA splicing factors.
(MBNL1 AND CELF1), which are two RNA splicing factors.
The muscle wasting in this disease could be due
to an imbalance of metabolism
The muscle wasting in this disease could be due
to an imbalance of metabolism
PERSONAL OPINIONPERSONAL OPINIONI think it is important to elucidate as a
pathology as the MD can be affected by various endogenous factors as an
alternative splicing as it is important for the proper management of treatments to observe and analyze the various patterns
of manifestation of this taking into account genomic variations.
PERSONAL OPINIONPERSONAL OPINIONI think it is important to elucidate as a
pathology as the MD can be affected by various endogenous factors as an
alternative splicing as it is important for the proper management of treatments to observe and analyze the various patterns
of manifestation of this taking into account genomic variations.
““A NEW GENE-EXPRESSION MECHANISM IS A A NEW GENE-EXPRESSION MECHANISM IS A MINOR THING OF MAJOR IMPORTANCE”MINOR THING OF MAJOR IMPORTANCE”
new aspect of the gene-splicing process that
produces messenger RNA (mRNA)
new aspect of the gene-splicing process that
produces messenger RNA (mRNA)
small RNA, called U6atac, controls the expression of
hundreds of genes that have critical functions in cell growth,
cell-cycle control, and global control of physiology.
small RNA, called U6atac, controls the expression of
hundreds of genes that have critical functions in cell growth,
cell-cycle control, and global control of physiology.
““A NEW GENE-EXPRESSION MECHANISM IS A A NEW GENE-EXPRESSION MECHANISM IS A MINOR THING OF MAJOR IMPORTANCE”MINOR THING OF MAJOR IMPORTANCE”
There are two varieties of spliceosomes, the so-called major and minor.
There are two varieties of spliceosomes, the so-called major and minor.
Most of the time the minor spliceosome, which has similar but not identical
components to that of the major.
Most of the time the minor spliceosome, which has similar but not identical
components to that of the major.
each type of spliceosome recognizing different
splicing cues
each type of spliceosome recognizing different
splicing cues
the major spliceosome acts on the vast majority of introns and the minor one splices the several
hundred minor-type introns.
the major spliceosome acts on the vast majority of introns and the minor one splices the several
hundred minor-type introns.
““A NEW GENE-EXPRESSION MECHANISM IS A A NEW GENE-EXPRESSION MECHANISM IS A MINOR THING OF MAJOR IMPORTANCE”MINOR THING OF MAJOR IMPORTANCE”
the minor spliceosome has effects of different physiological conditions such as cell stress, transcription, and protein synthesis on small noncoding RNAs
the minor spliceosome has effects of different physiological conditions such as cell stress, transcription, and protein synthesis on small noncoding RNAs
U6atac is a catalytic component of the minor spliceosome.
U6atac is a catalytic component of the minor spliceosome.
Low U6atac levels within cells limit the rate of
minor intron splicing, and thus the expression of
important genes
Low U6atac levels within cells limit the rate of
minor intron splicing, and thus the expression of
important genes
new and vital role for U6atac is more than simply splicing out minor
introns, actually its functions as a control and regulatory mechanism for minor intron-containing genes.
new and vital role for U6atac is more than simply splicing out minor
introns, actually its functions as a control and regulatory mechanism for minor intron-containing genes.
““A NEW GENE-EXPRESSION MECHANISM IS A A NEW GENE-EXPRESSION MECHANISM IS A MINOR THING OF MAJOR IMPORTANCE”MINOR THING OF MAJOR IMPORTANCE”
PERSONAL OPINIONPERSONAL OPINIONI think it's important to know that the spliceosome has several units greater and less fulfilling various roles in the expression and regulation of mRNA
and activity on genes.
PERSONAL OPINIONPERSONAL OPINIONI think it's important to know that the spliceosome has several units greater and less fulfilling various roles in the expression and regulation of mRNA
and activity on genes.
MEDICAL UTILITYMEDICAL UTILITY
Splicing process is one of the best distinguished so far, because thanks to
their study is possible to analyze the protein variants that are in the human
genome. thus facilitating the distinction of proteins acting on a same fabric as either
receptors, hormones, enzymes or structural part thereof. the study of
protein synthesis is useful to medical level because it allows new discoveries about various pathologies and likewise allows
increasing treatment methods for these, allowing people an early detection of
diseases with proper management can greatly improve quality of life measure
Splicing process is one of the best distinguished so far, because thanks to
their study is possible to analyze the protein variants that are in the human
genome. thus facilitating the distinction of proteins acting on a same fabric as either
receptors, hormones, enzymes or structural part thereof. the study of
protein synthesis is useful to medical level because it allows new discoveries about various pathologies and likewise allows
increasing treatment methods for these, allowing people an early detection of
diseases with proper management can greatly improve quality of life measure
MEDICAL UTILITYMEDICAL UTILITY
Splicing process is one of the best distinguished so far,
because thanks to their study is possible to analyze the
protein variants that are in the human genome.
Splicing process is one of the best distinguished so far,
because thanks to their study is possible to analyze the
protein variants that are in the human genome.
MEDICAL UTILITYMEDICAL UTILITY
the distinction of proteins acting on a same fabric as either receptors,
hormones, enzymes or structural part thereof
the distinction of proteins acting on a same fabric as either receptors,
hormones, enzymes or structural part thereof
MEDICAL UTILITYMEDICAL UTILITY
protein synthesis is useful to medical level because it allows new discoveries about various
pathologies and likewise allows increasing treatment methods
for these.
protein synthesis is useful to medical level because it allows new discoveries about various
pathologies and likewise allows increasing treatment methods
for these.
BIBLIOGRAPHYBIBLIOGRAPHY
MARTÍNEZ SÁNCHEZ, Lina María. Biología molecular.7 ed. Medellín: UPB. Fac. de Medicina, 2012. 102-106p.
Aberrant Splicing Saps the Strength of 'Slow' Muscle Fibers. Science Daily (online magazine). 2013 (July 29)Avaliable: http://www.sciencedaily.com/releases/2013/07/130729161755.htm
A New Gene-Expression Mechanism Is a Minor Thing of Major Importance. Science Daily (online magazine). 2013 (Aug. 21). Avaliable: http://www.sciencedaily.com/releases/2013/08/130821124249.htm