1. Laura Valentina Lpez Gutirrez Medical Student

2. INTRODUCTION The central dogma ofgenectic information is:DNARNA PROTEINS RNA RNAm: mould for proteinsynthesis RNAr: component of theribosomes RNAt: aligns the aminoacidsalong the RNAm 3. Mutations in AutismSusceptibility Gene Increase Risk in Boys Researchers identified five diferentand rare mutations in a gene, theseincrease the chances that a childrendevelop an ASD. The presence of intellectual disabilitywith autistic features, is responsibilityof the elimination or silence of AFF2gene. 4. Autism Spectrum Disorder (ASD) ASD is a disability that causes problems with social interaction, they cant 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. 5. AFF2 Gene The AFF2 gene and otherslike that, are ubicated in thechromosome X, that reasonexplains why AutismSpectrum Disorders affectfour times more to boysthan to girls, because thegirls have other copy of thischromosome that cancompensate if there is amutation in one of both.XY XX 6. Mutations A mutation is the alteration in the DNAsequence, which can range from changing anitrogenous base, to the deletion of achromosome or gain a full chromosome.Those can be:*Deletion*Translocation*Duplication*Inversion*Polyploidy*Change of bases 7. PERSONAL COMENTARY Discovering this mutation in the gene AFF2 isvery important, because this may explainmany cases of children with ADS, and candetermine the inheritance of the gene. It isvery important as it will open up ways todiscover, if there are more genes located onchromosome X associated with this disease 8. Unique Mechanism Identifiedin Bacteria as Potential Target for Developing New Antibiotics Researchers have discoveredthat the enzyme RNasa R isresponsible for making RNAprocessing 3 , a necessarystep for the synthesis ofproteins of bacteries. Thisenzyme eliminates theadditional parts of a tRNAprecursor to make it functional.Thus the follows researcheswill focus on blocking thisprotein. 9. RNAt 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. 10. Mycoplasma Genitalium One such pathogen is thebacterium Mycoplasmagenitalium, which is thesecond smallest knownfree-living organism that isthought to cause infertility,urethritis and cervicitis inwomen. 11. Antibiotics An antibioticis a chemical substance producedbya 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 . 12. PERSONAL COMENTARY It is comforting that through molecular biology,the researches do findings so important likethe mechanisms used by bacteria to live, andthus know how to attack them, specifically themechanisms of action of their enzymes,inhibiting protein synthesis, a process requiredfor replication. 13. MEDICAL UTILITY Autism is a disability thatlimits the socialization anddevelopment of the mentalprocesses of the individual,now to they found the gene inwhich mutation develops theADS, allows scientificallyadvance in the geneticmanagement for earlydiagnosis of this disease, andtreatment advice to improvethe quality of life of peoplewith autism and their families. 14. MEDICAL UTILITY This discovery is a interesting and big step inthe searching of causes in autism spectrumdisorder (ASD), because these mutationsfound in this study explain 20% of cases ofthe boys with the disorder. Also I believe isvery important the following studies that theyare going to do about this topic, theresearchers will start the investigations,discovering what is the function of the proteinencoded from AFF2 gen, and thus knowingthe pathological mechanism of autismspectrum disorder, for do its post treatment. 15. MEDICAL UTILITY Mycoplasma genitalium causes, in some casesinfertility in women; so, by treatment thesebacteries with antibiotics, it would reduce thenumbers of infertility, giving these families theposibility to have children. Currently there are antibiotics that have a rolesimilar to the mechanism of action is to seek toblock this new enzyme, RNase R, the inhibitionof protein synthesis. The antibiotics that inhibit30 S ribosomal subunit are macrolides,tetracyclines, aminoglycosides glycylcyclines.And those that inhibit the 50S subunit areglincosamidas, chloramphenicol, quetolidos. 16. MEDICAL UTILITY The study of the enzymes that the bacteriesuse for do the proteins synthesis, is key tosearch new targets for antibiotics, and thusmake a better control of bacterial diseases;this finding made by the molecular biology willhelp to medical act enormously . 17. BIBLIOGRAFY Mutations in Autism Susceptibility Gene Increase Risk inBoys.Published on July 11, 2012 Unique Mechanism Identified in Bacteria as PotentialTarget for Developing New Antibiotics.Published on July 20, 2012 Cooper Geoffrey M, Coopers Cell, 4. ed. EditorialMarban, 2008. 310p. MARTINEZ SNCHEZ, Lina Mara. Biologa molecular. 7.ed. Medelln: UPB. Fac. de Medicina, 2012. 75p. 18. GRACIAS