Genetic polymorphisms
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This document discusses genetic polymorphisms and summarizes several research articles. It begins by defining genetic polymorphisms as variations in regulatory DNA. It then summarizes a study that used a cross-species strategy to identify genes involved in Alzheimer's disease by comparing human and fly genomes. Another section summarizes findings from a study linking certain genes to membranous nephritis. Specifically, it discusses the association between this disease and the PLA2R receptor gene. The document concludes by discussing the medical utility of these findings, such as enabling early diagnosis and treatment.
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26 ASBMB TODAY FEBRUARY 2021
Discovering an old DoGs’
new trick
Heterotrimeric G proteins regulate
a variety of signaling pathways that
control cell development and influ-
ence cell morphology via actin/cyto-
skeleton remodeling. There are four
main families of G proteins: Gi/Go,
Gq, Gs and G12/13. Researchers long
have thought that Gs, unlike its family
members, is coupled specifically and
exclusively to adenylyl cyclases.
In a new study published in the
Journal of Biological Chemistry,
Alejandro Castillo–Kauil of the
Center for Research and Advanced
Studies of the National Polytechnic
Institute and collaborators challenge
this dogmatic view by identifying a
new Gs target. Using biochemical,
molecular biological and chemo-
genetic approaches, the researchers
demonstrated that the Gαs subfamily
of G proteins can regulate the activity
of Rho GTPases such as Rho guanine
nucleotide exchange factor, or Rho-
GEF. The interaction identified by the
group activates the small G protein
Cdc42 by Gs-coupled GPCRs, stimu-
lating a rearrangement of the cyto-
skeleton and inducing formation of
fingerlike protrusions called filopodia.
These results provide new insight
into G protein activity and define a
new role for RhoGEF coupling in G
protein function.
DOI: 10.1074/jbc.AC120.015204
A pathogen’s proteins target
mitochondria
The tick-borne pathogen Coxiella
burnetii causes Q fever, or query fever,
a rare flulike disease that can spread
to humans who inhale dust particles
contaminated by infected farm or
CONTINUED FROM PAGE 25
Noninvasive tool provides oral cancer prognosis
Oral squamous cell carcinoma, which affects about 34,000 people
in the U.S. each year, is found in the cells lining the lips and mouth.
Metastasis to the lymph nodes is a sign of disease progression and may
be accompanied by changes in proteolytic activity. During proteolysis,
enzymes cut up proteins into short fragments called peptides. Recent
work suggests that characterizing the sequence and abundance of these
molecules — a method dubbed peptidomics — might provide new in-
sight on cancer biology and in the clinic. In a recent paper in the journal
Molecular & Cellular Proteomics, Leandro Xavier Neves of the Brazil-
ian Biosciences National Laboratory and a team of Brazilian clinicians
and scientists describe their analysis of oral squamous cell carcinoma
patient saliva using peptidomics.
After extracting peptides from saliva samples, the research team ana-
lyzed and compared the peptide content in samples from patients with
and without metastasis to the lymph nodes. They found more than 1,000
uniquely expressed peptides in each group and an additional 1,628 pep-
tides expressed by both groups. A series of statistical analyses identified
77 peptides of particular interest; all of these peptides are overexpressed
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hypothesis that proteolytic activity increases ...
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Discovering an old DoGs’
new trick
Heterotrimeric G proteins regulate
a variety of signaling pathways that
control cell development and influ-
ence cell morphology via actin/cyto-
skeleton remodeling. There are four
main families of G proteins: Gi/Go,
Gq, Gs and G12/13. Researchers long
have thought that Gs, unlike its family
members, is coupled specifically and
exclusively to adenylyl cyclases.
In a new study published in the
Journal of Biological Chemistry,
Alejandro Castillo–Kauil of the
Center for Research and Advanced
Studies of the National Polytechnic
Institute and collaborators challenge
this dogmatic view by identifying a
new Gs target. Using biochemical,
molecular biological and chemo-
genetic approaches, the researchers
demonstrated that the Gαs subfamily
of G proteins can regulate the activity
of Rho GTPases such as Rho guanine
nucleotide exchange factor, or Rho-
GEF. The interaction identified by the
group activates the small G protein
Cdc42 by Gs-coupled GPCRs, stimu-
lating a rearrangement of the cyto-
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DOI: 10.1074/jbc.AC120.015204
A pathogen’s proteins target
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CONTINUED FROM PAGE 25
Noninvasive tool provides oral cancer prognosis
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Genetic polymorphisms
- 1. Genetic polymorphisms CindyZuluaga Ramírez Medicine student Molecular Biology
- 2. FOLDING
- 3. FOLDING
- 4. INTRODUCTION Variotion in regulatory DNA iswhatwecallPolymorphism. Thisisone of theways in wichwe can detect Polymorphisms.
- 5. Cross-Species Strategy Might Be a Powerful Tool for Studying Human DiseaseScienceDaily (Feb. 4, 2011)
- 6. Cross –speciesstrategy Specifically, the researchers evaluated 19 genes from 15 distinct genomic regions identified in a human GWAS designed to identify genes that influence Alzheimer´s disease pathology.
- 7. FINDINGS IN THE TECHNIQUE In six out of these 15 genomic regions, a causal gene was subsequently identified in the fly disease model on the basis of interactions with the neurotoxicity of Tau protein, a well-known constituent of AD pathology.
- 8. OBSERVATIONS I think that this technique is a huge improvement for genetic studies, since scientists are taking information from some other species in wich we could find some genetic similarities in some diseases and making new finds of the genetic basis of the disorder and get some new treatments .
- 9. Genes That Link Nephritis to Autoantibodies and Innate ImmunityTHE NEW ENGLAND JOURNAL OF MEDICINE (FEBRUARY 17,2011)
- 10. FINDINGS
- 11. The annual incidence of membranous nephropathy is approximately 1 case per 100,000 population. The results reported by Stanescu et al. confirm the findings of two recent studies from Asia (Taiwan and Korea) that used a candidate gene approach. Both those studies examined only SNPs in the PLA2R gene that resulted in amino acid changes, and a significant association was found for one SNP.
- 12. Although a relation between the HLA system and membranous nephropathy has been recognized for some time, the knowledge of an association between this disease and PLA2R is recent. In 2009, Beck and colleagues reported autoantibodies with specificity for PLA2R that were present in 70% of their patients with idiopathic membranous nephropathy but not in controls or patients with secondary membranous nephropathy. These results are now confirmed and extended in a letter by Debiec and Ronco in this issue of the Journal.
- 13. The SNP in the PLA2R gene with the strongest association does not alter the amino acid sequence Twopossibletheories Thers4664308 might be a marker for a rare variation in the protein sequence, below the threshold required to be considered a SNP. This putative variant would then confer a very high risk of disease for its carriers. the true association might not be with rs4664308 but rather with rs3749117, which is a nonsynonymous SNP reported to be in linkage disequilibrium with rs4664308. If so, the higher odds ratios in all three cohorts would have occurred at random.
- 14. CONCLUSSION In summary, this new genomewide association study highlights the interaction between the HLA system and the receptor for sPLA2 and provides substantial credence for a pathogenic role for the recently discovered autoantibodies in membranous nephropathy. It may redirect research toward finding a remedy for this troublesome disease.
- 15. OBSERVATIONS I think this new discovery will make easier the diagnosis of idiopathic membranous nephropathy making karyotype and searching changes among the alleles implicated in this disorder that encode HLA-DQA1 and the M-type phospholipase A2 receptor.
- 16. MEDICAL UTILITY
- 17. MEDICAL UTILITY Early diagnosis Improvement in thelifequality of thepatients Easy identification of the patients in risk Early and quickbegining of treatment Forthedevelopment and thesustentation of geneticstudies .
- 18. BIBLIOGRAPHY N Engl J Med 2011; 364:679-680; http://www.nejm.org/doi/full/10.1056/NEJMe1014144 http://www.sciencedaily.com/releases/2011/02/110203124712.htm STRACHAN, Tom. Human molecular genetics , 2004. 3.ed. Garland science