Study tracks mutations causing CDA II back to the Roman Empire

IDIBAPS - Institut d'Investigacions Biomèdiques August Pi i Sunyer ^ | October 7, 2011 | Unknown

[decimon]

The study, led by the ENERCA member professor Achille Iolascon, was recently published in the American Journal of Hematology

Many of you might know that Congenital Dyserythropoietic Anemia type II (CDA II) is a rare blood disorder, due to a failure in final part of erythropoiesis. What will surprise you is the fact that some mutations responsible for the disease can be tracked 3.000 years back. A study led by the ENERCA member Prof. Achille Iolascon, from CEINGE Advanced Biotechnologies (Naples, Italy) and the University of Naples Federico II, analyzes two mutations (E109K and R14W) of the SEC23B gene and discovers one of them is responsible for the higher frequency of CDA II in Italian population. The first mutation, E109K, may have originated in the Middle East about 2.400 years ago and may have spread in the heyday of the Roman Empire. The other one may have originated in Southern Italy about 3.000 years ago.

ENERCA is an acronym for European Network for Rare and Congenital Anaemias. It started back in 2002, funded by the European Commission and led by Dr. Joan Lluís Vives Corrons, an investigator from the Hospital Clínic of Barcelona and the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS). Its purpose is offering an improved public health service to professional medical practitioners and patients in every aspect of rare anaemias.

As many other kinds of anemia, CDA II is characterized by ineffective erythropoiesis. It leads patients to a decrease in the number of produced reticulocytes and a low concentration of hemoglobin in the blood. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues, resulting in various symptoms of anemia including: tiredness (fatigue), weakness, pale skin, and other similar complications.

[decimon]

Ping

[decimon]

Ping

Don’t know what this means but figure it should mean something.

[DManA]

can be tracked 3.000 years back

Which is considerably before the Roman Empire. I swear headline writers never read the story.

[Sawdring]

I thought the CDA was the California Dental Association. I’m glad this got cleared up.

[TheOldLady]

Click the Pic               Thank you, JoeProBono

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[SunkenCiv]

GGG managers are SunkenCiv, StayAt HomeMother & Ernest_at_the_Beach	join list or digest view topics view or post blog bookmark post a topic subscribe
Thanks decimon. Congenital Dyserythropoietic Anemia type II Oh, of course! It was right on the tip of my tongue. :') To all -- please ping me to other topics which are appropriate for the GGG list.

[SunkenCiv]

...analyzes two mutations (E109K and R14W) of the SEC23B gene and discovers one of them is responsible for the higher frequency of CDA II in Italian population. The first mutation, E109K, may have originated in the Middle East about 2.400 years ago and may have spread in the heyday of the Roman Empire. The other one may have originated in Southern Italy about 3.000 years ago.

[decimon]

Congenital Dyserythropoietic Anemia type II

Oh, of course! It was right on the tip of my tongue. :')

But where was your tongue?

[ElkGroveDan]

Bloody Romans, what have they ever given us?

[decimon]

Bloody Romans, what have they ever given us?

Congenital Dyserythropoietic Anemia type II. But I don't recall that from the Python skit.