splicing

SPLICINGDaniel Peña TobónMedicine Student

FOLDING

FOLDING

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.

Aberrant Splicing saps the strength of “slow”

muscle fibersJuly 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.

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.

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.

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.

STUDENT COMMENTS

Key piece of RNA—Splicing Machinery revealed: Little

Elongation ComplexAug 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.

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.

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.

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.

STUDENT COMMENTS

MEDICAL UTILITY

To determine mechanism of action that has some genetic diseases.

To understand what process are involved in cancer and other disorders.

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

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.

MEDICAL UTILITY

All these developments in molecular biology are the gateway for new advances in pharmacology and in medicine in general

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