Ana María Arango RivasMedicine Student

Universidad Pontificia BolivarianaMedellín

February 6th, 2012

Novel Compound to Halt Virus replication Identified AND Spasticity Gene Finding Provides Clues to Causes of Nerve Cell Degeneration

IntroductionCytogenetic

Studies chromosomes = structure + heritability

Abnormal chromosomes Chromosomes

with:-Deletions-Translocations-Investments-Duplications-Insertions

Exposed in karyotype

Central dogma

Novel compound to halt virus replication identified“A team of scientists from Boston

University School of Medicine (BUSM) have identified a novel compound that inhibits viruses from replicating. The findings, which are published online in the Journal of Virology, could lead to the development of highly targeted compounds to block the replication of poxviruses, such as the emerging infectious disease Monkeypox.” ScienceDaily (Jan. 3, 2012)

PoxvirusesSmallpoxvaccinia virus Monkeypox virus

Smallpox virus Was declared eradicated by the World Health Organization in 1979 after successful vaccination efforts

Instead of that, the number of people being infected by Monkeypox is increasing globally.

Vaccinia virus -Replicate inside human cells

-It’s a deadly poxvirus that killed hundreds of ___________________millions of people.

* A group of scientists searched for compounds that stop the virus replication

*How the compound that they discovered work?The virus can enter the cell in its presence but once the virus is inside, the compound inactivates an essential point of the replication.

*FINALLY…

The scientists tested the efficacy of the chemical compound _____________________on the Monkeypox virus.

The results of different tests were similar

It shows that this chemical compound has the ability to inhibit different varieties of poxviruses.

A new drug for poxviruses in general can be made

ObservationsMust viruses have RNA as genetic material instead of DNA and that’s the reason why they codify reverse transcriptase. This enzyme catalyzes DNA synthesis from RNA mold. In my opinion, if science want to stop viruses replication, has to find the best way to enter inside the virus and inhibit reverse transcriptase maybe using competition for the hotspot where the enzyme works. If the method to do that is clear, viruses won´t be able to do the synthesis of DNA from RNA, and the replication will stop.

«In the Journal of Clinical Investigation, an international team of scientists led by Dr Evan Reid at the University of Cambridge and Dr Stephan Zuchner from the University of Miami reports that mutations in the gene known as reticulon 2 on chromosome 19 cause a form of hereditary spastic paraplegia (HSP). HSP is characterised by progressive stiffness and contraction (spasticity) of the legs, caused by selective and specific degeneration of axons.» ScienceDaily (Jan. 9, 2012)

Spasticity Gene Finding Provides Clues to Causes of

Nerve Cell Degeneration

Gene Reticulon 2Provides the genetic code for a reticulon protein.- Has a key role in shaping the endoplasmic reticulum

Endoplasmic reticulum It’s network of interconnected sheets and tubules.

Sheets are involved in protein synthesis, Tubules are specialized to carry out the other functions.

functions -protein synthesis -calcium signalling -the regulation of cell components

Axon degeneration

One of the causes is a defect in how the endoplasmic reticulum is shaped and formed

Axon degeneration results

signals are unable to pass through the nerve cells and it causes the breakdown of communication within the central nervous system

Can cause sclerosis

*RESULTS

• It’s a hope for the families affected by HSP (hereditary spastic paraplegia), because it opens up the possibility of genetic counselling and testing.

• Creates a platform for scientists to study how axons are damaged in degenerating illnesses such as HSP and sclerosis.

*ObservationsCytogenetic has a huge importance as a method to determinate the

chromosome abnormalities as deletions. If this science techniques identify the specific point in a chromosome where is the defect, scientists can discover the beginnings of a disease and interfere in the development of it. If in this case the point where the deletion is clear, they can find the incidence of the disease in a population accord the heritage and make a solution to the degeneration of the axons and maybe anticipate to the developed physical defects as paraplegia.

*Medical utilityNowadays, technology makes easier to medicine to know the chromosomal constitution of a person. If science can be able to study the genes and its structure, medicine has a great chance to intervene and find the specific point were a disease begins.

*Knowing the specific point in a chromosome where the problem is, helps the studies to determinate the incidence of a disease based on the heritage and with this knowledge, medicine can anticipate to the development of a disease and its degeneration results.

Cri du chat Syndrome

It is due to a partial deletion of the short arm of chromosome number 5 and it’s the perfect example of genetic mutation. Infants affected cry like a meowing kitten and have problems on nervous system.

Using the karyotype of a person, scientists can analyze the chromosomal structure and if it is not normal, they will be able to determinate where is the specific point of the deletion.

*The central dogma is the base of a lot of pharmaceutical products. Let’s take Monoclonal antibodies as an example, these are proteins produced in laboratories using cellular replication models in controlled conditions, which ability is, to specifically bind to any molecule with antigenic character, signaling to the immune system where work to be done is.

* MARTINEZ S, Lina María. Biología Molecular. 6 ed. Medellín: UPB. Fac de Medicina. p. 65-73

Novel Compound to Halt Virus Replication Identified. Science Daily (January 3, 2012).

Spasticity Gene Finding Provides Clues to Causes of Nerve Cell Degeneration. Science Daily (January 9, 2012).

*Bibliography