Extracted from EmaxHealth
By Armen Hareyan on April 28, 2008 - 12:28pm for eMaxHealth
Researchers from McGill University and the University of Toronto have discovered that the mutation which causes pyruvate kinase deficiency - a genetic disorder of blood cells - protects its carriers against malaria. This discovery demonstrates the profound influence of malaria on human evolution, a virtual "fingerprint" within the human genome itself, say the researchers. Their study was published April 16 in the New England Journal of Medicine.
The research was conducted by Dr. Philippe Gros of the Department of Biochemistry at McGill and Dr. Kevin Kain of the McLaughlin-Rotman Centre for Global Health at the University of Toronto, and colleagues at both institutions, and was funded by the Canadian Institutes for Health Research (CIHR). The study was first-authored by Kodjo Ayi, a McGill post-doctoral fellow working in Dr. Kain's lab.
Malaria is an infectious disease spread by parasites of the genus Plasmodium. Most common in tropical and subtropical regions, it is a global scourge with 350 to 500 million new cases - and one to three million fatalities - reported annually.
For its part, pyruvate kinase deficiency is an inherited genetic deficiency which causes the abnormal breakdown of red blood cells and hemolytic anemia. It is an autosomal recessive trait, which means both parents must carry the defective gene and pass it along for their offspring to develop the disorder.
The study stemmed from the discovery in Dr. Gros's lab of a mouse strain that was particularly resistant to malaria, was later shown to carry a mutation that leads to pyruvate kinase deficiency.
"In previous mouse studies we showed that the anemia caused by pyruvate kinase deficiency actually protects the animals from the malaria parasite which attacks mice," Dr. Gros explained.
In this follow-up study, conducted in partnership with Dr. Kain's team in Toronto, the researchers showed that humans carrying the pyruvate kinase deficiency gene are similarly protected against malaria.
"We've proved that the malaria parasite does not invade the red blood cells or replicate nearly as well in those mutant individuals as in normal people," Dr. Gros explained. "And even those cells which do get infected are eliminated much more quickly."
Perhaps even more critically, Dr. Gros said, the study showed that individual bearing only one copy of the pyruvate kinase deficiency mutation (healthy carriers) are also protected against malarial parasites.
"These people carry only one copy of the mutation, they're asymptomatic, they don't have anemia. However, having one copy of the mutated gene is sufficient to impart significant protection against the malarial parasite" said Dr. Gros. "Although this isn't proven yet, it's starting to look like these mutations may have been preserved in the population because of evolutionary pressure from the malaria parasite."
Though no therapies are likely to derive from this discovery, Dr. Gros said, it provides a fascinating window on how deadly pathogens like malaria have influenced human evolution.
Source:
McGill University
Reference:
>> EmaxHealth, 2008. Rare Genetic Disease Protects Carriers Against Malaria. [online] Available at: <http://www.emaxhealth.com/39/21957.html> [Accessed 12 December 2012].
3 comments:
I think that the detrimental effect of this rare genetic disease has hinted that there is a historical driving force that maintained the polymorphic frequency of the abnormal allele. In this case, malaria is one of the most likely driving force. Although the exact way by which PKU protects the host from malaria has not been established, there have been studies that suggest that this could be due to the decrease in ATP levels caused by PKU. A depletion in the level of ATP can cause cross-linking of membrane proteins which impairs parasite invasion. Low levels of ATP also increase 2,3-diphosphoglycerate which disrupts certain protein interactions which leads to the instability of the red blood cell(RBC) membrane and also has an effect on the survival of the parasite when it is inside the RBC. There maybe many other reasons why PKU is able to protect people from malaria but I think that this is an interesting article that contributes to efforts in elucidating the driving forces behind the frequency of certain inherited erythrocyte diseases.
-Xin Yan & Mandy
In reply to Mandy & Xin Yan:
Indeed, there's a whole new world in science. Thank you for your contribution. :) Hopefully, more of such research will be carried out in the future in order to further reduce the effects of PKD or even bring malaria under control by focusing on the effect of such properties.
Dr Itua cure my HIV, I have been a ARV Consumption for 10 years. i have been in pains until i came across Dr Itua on blogs site.I emailed him about my details of my HIV and my location i explained every thing to him and he told me that there is nothing to be scared of that he will cured me, he gave me guarantee,He ask me to pay for items fees so when i'm cured I will show gratitude I did and giving testimony of his healing herbs is what I'm going to do for the rest of you out there having HIV and other disease can see the good work of Dr Itua.I received his herbal medicine through EMS Courier service who delivered to my post office within 5 working days.Dr Itua is an honest man and I appreciate him for his good work.My GrandMa called him to appreciate him and rest of my friends did too,Is a joy to me that I'm free of taking Pills and having that fat belle is a nightmare.you will understand what i'm talking about if you have same problem I was having then not now though.I'm free and healthy Big Thanks To Dr Itua Herbal Center.I have his calendar too that he recently sent me,He Cure all kind disease Like,Cancer,Weak Erection,Wart Remover,Hpv,Herpes,Alzheimer’s disease,Bechet’s disease,Crohn’s disease
,Cushing’s disease,Heart failure,Multiple Sclerosis,Hypertension,Fibromyalgia,Hiv,Hepatitis B,Liver/Kidney Inflamatory,Epilepsy,Blood Cancer,Prostate Cancer,Colo-Rectal Cancer,Brain Cancer,Lung Cancer,Infertility,Parkinson's disease,Schizophrenia,Lung Cancer,Breast Cancer,Colo-Rectal Cancer,Blood Cancer,Prostate Cancer,siva.Fatal Familial Insomnia Factor V Leiden Mutation ,Epilepsy Dupuytren's disease,Desmoplastic small-round-cell tumor Diabetes ,Coeliac disease,Creutzfeldt–Jakob disease,Cerebral Amyloid Angiopathy, Ataxia,Arthritis,measles, tetanus, whooping cough, tuberculosis, polio and diphtheriaAmyotrophic Lateral Scoliosis,Fibromyalgia,Fluoroquinolone Toxicity
Syndrome Fibrodysplasia Ossificans ProgresSclerosis,Seizures,Alzheimer's disease,Adrenocortical carcinoma.Asthma,Allergic diseases.Hiv_ Aids,Herpe ,Copd,Glaucoma., Cataracts,Macular degeneration,Cardiovascular disease,Lung disease.Enlarged prostate,Osteoporosis.Alzheimer's disease,
Dementia.Fibroid,Diabetes,Dercum,Copd ,and also Bring back Ex Lover Back..Here his Contact .drituaherbalcenter@gmail.com / info@drituaherbalcenter.com Or Whats_app Number +2348149277967
Post a Comment