Discovery of new form of dystrophin protein could lead to therapy for some Duchenne muscular

dystrophy patients&

Genetics, lifestyle have a strong impact on biomarkers for inflammation, cancer

Susana López PinedaMedicine Student

UPBTeacher:

Lina Martinez

Are macromolecules and the end of

all cellular process

Proteins

They have many functions as buffer, inmunologic

sistem, enzymes, expression genetic control

and molecules in the membrane cell

Discovery of new form of dystrophin protein could lead to therapy for some Duchenne

Muscular Dystrophy patients August 10, 2014

FAT TISSUE SCAR TISSUE

Dystrophin Gene

Exon 5

Initiation of protein translation within exon 6

IRES

Exon skipping

Removal of an exon early in the gene in order to mimic the IRES-activating

mutations found in minimally affected patients.

In my opinion those studies about the

new form of dystrophin protein are so

interesting because shows other form

to produce a protein in exon 5 by

IRES,that means that symptoms in

Duchenne muscular dystrophy are less

severe.

 

Personal Opinion

Genetics, lifestyle have a strong impact on biomarkers for

inflammation, cancer August 22, 2014

Protein levels in the

bloodstream

Indicators of many biological states, biochemical and

molecular levels in the human blood or urine

In cancer

Biomarkers

Study in Uppsala University

Hereditary factors

More than 75 percent of the

proteins

16 genes with a strong effect on

protein levels

If biomarkers are present in

healthy persons

could be used like

Screening , identificated and prevent early some

diseases

In this study we can realize that the clinical of the patient is most

important than an exams or biomarkers, How many patients are we treating just for a positive

laboratory?. Use laboratory exams of biomarkers are an excellent

tool to make a diagnostic but we need to know when is necessary

to use them. 

Both studies contributed interesting problems caused by

damages in RNA splicing or proteins

synthesis, and how the not correct process

can unchain different diseases.

If we identify why some biomarkers are present

in some healthy people, maybe we can find why

some disease can development in a

person and why not in other person, and could

prevent it.

When we find the different causes or

what kind of mutation

generates a disease, it’s when

we can really understand why some treatments can work in some

patients and not in other ones.

REFERENCES MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 2. ed. Medellín: UPB. Fac. de

Medicina, 2006. 112-115 p.

Nicolas Wein, Adeline Vulin, Maria S Falzarano, Christina Al-Khalili Szigyarto, Baijayanta Maiti, Andrew Findlay, Kristin N Heller, Mathias Uhlén, Baskar Bakthavachalu, Sonia Messina, Giuseppe Vita, Chiara Passarelli, Francesca Gualandi, Steve D Wilton, Louise R Rodino-Klapac, Lin Yang, Diane M Dunn, Daniel R Schoenberg, Robert B Weiss, Michael T Howard, Alessandra Ferlini, Kevin M Flanigan.  Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nature Medicine, 2014; DOI: 10.1038/nm.3628

News Available in : http://www.sciencedaily.com/releases/2014/08/140810214154.htm

Enroth et al. Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs. Nat. Commun, August 2014 DOI:10.1038/ncomms5684

News Available in : http://www.sciencedaily.com/releases/2014/08/140822083901.htm

Thank you !