4. INTRODUCTION
The splicing is fundamental in RNA maturation
process, each RNAs, needs splicing to finalize its
process, when the process is incorrect, the protein
production is bad and the function of this protein is
altered.
The objective of splicing is cut intron because this
portion of genetic material isn’t codification for a
protein, next that spliceosome cut, the same complex
paste exons.
The alternative splicing generate from a only gene
various proteins. In this process there a change in the
combinations of exons then there is a proteins
isoforms production with different function.
5. Aberrant Splicing saps the
strength of “slow” muscle fibers
July 29, 2013
Myotonic dystrophy type 1 (DM1) is a multisystem
disorder that affects skeletal and smooth muscle as
well as the eye, heart, endocrine system, and central
nervous system.
DM1 is characterized by muscle weakness and
wasting, myotonia, cataract, and often cardiac
conduction abnormalities; adults may become
physically disabled and may have a shortened life
span.
6. Aberrant Splicing saps the strength of “slow” muscle fibers
The aberrant splicing change
the form of an enzyme: PKM2
PKM2 is fundamental in
metabolism of muscle cell.
Myotonic dystrophy type 1
affects slow muscle fibers.
7. Aberrant Splicing saps the strength of “slow” muscle fibers
PKM2, represents a shift back
to the fetal splicing pattern.
The change affects the muscle
fibers.
The change in PKM2 pushes
the muscular function it in the
opposite direction from what
slow fibers do.
8. Aberrant Splicing saps the strength of “slow” muscle fibers
¿ What happens in splicing process?
CTG repeat an abnormal numbers
of time.
CTG in DNA is transcribed into CUG
in RNA, the resulting aberrant protein
is toxic and disrupts the activity or
MBNL1 and CELF1.
MBNL1 and CELF1 are RNA
splicing factors.
10. Key piece of RNA—Splicing Machinery
revealed: Little Elongation Complex
Aug 8, 2013
LEC plays a critical and previously unknown
role in a transcription of small nuclear RNAs.
snRNA transcription is vitally important to gene
expression and regulation.
11. Key piece of RNA—Splicing Machinery revealed: Little
Elongation Complex
Understanding LEC and the
machinery of snRNA transcription
may also have implications for the
treatment of disease. It could, for
example, open the door to novel
approaches for treating diseases that
are associated with defective snRNA
function and splicing, such as spinal
muscular atrophy and Prader-Willi
syndrome, or attacking cancer cells,
whose proteins may also undergo
splicing.
12. Key piece of RNA—Splicing Machinery revealed: Little
Elongation Complex
The investigator used Drosophila
as an experimental model.
The team sequenced the entire
genome to track where LEC went,
and were able to show it sought out
places in the genome that encode
snRNA.
13. Key piece of RNA—Splicing Machinery revealed: Little
Elongation Complex
The LEC is a compact complex, then a
part of this complex doesn’t work, is
imposible the correct splicing process.
15. MEDICAL UTILITY
To determine mechanism of action
that has some genetic diseases.
To understand what process are
involved in cancer and other
disorders.
16. MEDICAL UTILITY
When is possible to have a
diagnosis, is easier the
treatment that if no.
The splicing process is
important because it is a critical
phase in the transcript, when
doesn’t operate the splicing
severe unwanted responses are
generated within the cell
17. MEDICAL UTILITY
When is possible to have a
diagnosis, is easier the
treatment that if no.
To attack disorders as cancer,
myotonic dystrophy, spinal
muscular atrophy, Prader Willi
syndrome and others.
18. MEDICAL UTILITY
All these developments in
molecular biology are the
gateway for new advances in
pharmacology and in medicine
in general
19. REFERENCES
MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7. ed. Medellín: UPB. Fac. de
Medicina, 2012. 104—105p.
Science Daily [in line]. Staff; July 29, 2013 [access August 31/2013]. Aberrant
Splicing Saps the Strength of 'Slow' Muscle Fibers; [approximately 2 screens].
Available : http://www.sciencedaily.com/releases/2013/07/130729161755.htm
Science Daily [in line]. Staff; August 8, 2013 [access August 31/2013]. Key Piece of
RNA-Splicing Machinery Revealed: Little Elongation Complex; [approximately 3
screens]. Available:
http://www.sciencedaily.com/releases/2013/08/130808123316.htm
