Laura Valentina López Gutiérrez

Medical Student

INTRODUCTIOINTRODUCTIONN

The central dogma of genectic information is:

RNARNAm: mould for protein

synthesisRNAr: component of the

ribosomesRNAt: aligns the aminoacids

along the RNAm

DNA RNA PROTEINS

Mutations in Mutations in Autism Autism

Susceptibility Susceptibility Gene Increase Gene Increase Risk in BoysRisk in Boys Researchers identified five diferent

and rare mutations in a gene, these increase the chances that a children develop an ASD.

The presence of intellectual disability with autistic features, is responsibility of the elimination or silence of AFF2 gene.

AutismAutism SpectrumSpectrum DisorderDisorder (ASD) (ASD)

ASD is a disability that causes problems with social interaction, they can´t have a verbal communication, nor non-verbal communication, also they have routines or repetitive behaviors. ASD can be associated with difficulties in motor coordination and attention and physical health like sleep and gastrointestinal disturbances.

AFF2 GeneAFF2 Gene The AFF2 gene and others

like that, are ubicated in the chromosome X, that reason explains why Autism Spectrum Disorders affect four times more to boys than to girls, because the girls have other copy of this chromosome that can compensate if there is a mutation in one of both.

♂ ♀ 

XY XX

MutationsMutations

A mutation is the alteration in the DNA sequence, which can range from changing a nitrogenous base, to the deletion of a chromosome or gain a full chromosome. Those can be:

*Deletion

*Translocation

*Duplication

*Inversion

*Polyploidy

*Change of bases

PERSONAL COMENTARYPERSONAL COMENTARY

Discovering this mutation in the gene AFF2 is very important, because this may explain many cases of children with ADS, and can determine the inheritance of the gene. It is very important as it will open up ways to discover, if there are more genes located on chromosome X associated with this disease

Unique Mechanism Identified Unique Mechanism Identified in Bacteria as Potential in Bacteria as Potential

Target for Developing New Target for Developing New AntibioticsAntibiotics

Researchers have discovered that the enzyme RNasa R is responsible for making RNA processing 3 ', a necessary step for the synthesis of proteins of bacteries. This enzyme eliminates the additional parts of a tRNA precursor to make it functional. Thus the follows researches will focus on blocking this protein.

RNAtRNAt In the synthesis of proteins,

each aminoacid must be aligned with a corresponding codon of the RNAm mold. The RNA transfer serves as the adapter of this process. The RNAm sequence is recognized by the anticodon located at one end of the molecule, at the other end is located the aminoacid, and thus are united one by one by peptide bonds.

Mycoplasma GenitaliumMycoplasma Genitalium

One such pathogen is the bacterium Mycoplasma genitalium, which is the second smallest known free-living organism that is thought to cause infertility, urethritis and cervicitis in women.

AntibioticsAntibiotics

An antibiotic is a chemical substance produced by a microorganism and therefore has a natural origin, that suppresses the growth of other microorganisms and may eventually destroy them, so it is effective for the treatment of infections caused by internal body such germs, mainly bacterial infections .

PERSONAL COMENTARYPERSONAL COMENTARY

It is comforting that through molecular biology, the researches do findings so important like the mechanisms used by bacteria to live, and thus know how to attack them, specifically the mechanisms of action of their enzymes, inhibiting protein synthesis, a process required for replication.

MEDICAL UTILITYMEDICAL UTILITY Autism is a disability that

limits the socialization and development of the mental processes of the individual, now to they found the gene in which mutation develops the ADS, allows scientifically advance in the genetic management for early diagnosis of this disease, and treatment advice to improve the quality of life of people with autism and their families.

MEDICAL UTILITYMEDICAL UTILITY This discovery is a interesting and big step in

the searching of causes in autism spectrum disorder (ASD), because these mutations found in this study explain 20% of cases of the boys with the disorder. Also I believe is very important the following studies that they are going to do about this topic, the researchers will start the investigations, discovering what is the function of the protein encoded from AFF2 gen, and thus knowing the pathological mechanism of autism spectrum disorder, for do it´s post treatment.

MEDICAL UTILITYMEDICAL UTILITY Mycoplasma genitalium causes, in some cases

infertility in women; so, by treatment these bacteries with antibiotics, it would reduce the numbers of infertility, giving these families the posibility to have children.

Currently there are antibiotics that have a role similar to the mechanism of action is to seek to block this new enzyme, RNase R, the inhibition of protein synthesis. The antibiotics that inhibit 30 S ribosomal subunit are macrolides, tetracyclines, aminoglycosides glycylcyclines. And those that inhibit the 50S subunit are glincosamidas, chloramphenicol, quetolidos.

MEDICAL UTILITYMEDICAL UTILITY

The study of the enzymes that the bacteries use for do the protein´s synthesis, is key to search new targets for antibiotics, and thus make a better control of bacterial diseases; this finding made by the molecular biology will help to medical act enormously .

BIBLIOGRAFYBIBLIOGRAFY Mutations in Autism Susceptibility Gene Increase Risk

in Boys. Published on July 11, 2012  Unique Mechanism Identified in Bacteria as Potential

Target for Developing New Antibiotics. Published on July 20, 2012   Cooper Geoffrey M, Cooper´s Cell, 4. ed. Editorial

Marban, 2008. 310p.   MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 7.

ed. Medellín: UPB. Fac. de Medicina, 2012. 75p.

GRACIAS