Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F05%3A00000822" target="_blank" >RIV/61989592:15110/05:00000822 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/05:00009457 RIV/61989592:15110/05:00006288

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload

Original language description

Divalent metal transporter 1 (DMT1) is a transmembrane protein crucial for duodenal iron absorption and erythroid iron transport. DMT1 function has been elucidated largely in studies of the mk mouse and the Belgrade rat, which have an identical single nucleotide mutation of this gene that affects protein processing, stability, and function. These animals exhibit hypochromic microcytic anemia due to impaired intestinal iron absorption, and defective iron utilization in red cell precursors. We report herethe first human mutation of DMT1 identified in a female with severe hypochromic microcytic anemia and iron overload. This homozygous mutation in the ultimate nucleoticle of exon 12 codes for a conservative E399D amino acid substitution; however, its predominant effect is preferential skipping of exon 12 during processing of pre-messenger RNA (mRNA). The lack of full-length mRNA would predict deficient iron absorption in the intestine and deficient iron utilization in erythroid precursor

Czech name

Identifikace lidské mutace v genu pro DMT1 u pacienta s mikrocytární anemií a přetížením železem

Czech description

DMT1 je transmembránový protein, který plní klíčovou roli v absorbci železa v duodenu a v transportu železa v erytroidních buňkách. Funkce toho proteinu je poměrně dobře prostudována na myším modelu. Zde uvádíme první identifikovanou mutaci v genu pro DMT1 u pacientky s těžkou hypochromní mikrocytární anemií, u které se současně projevuje výrazný nadbytek železa.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

<a href="/en/project/NM6739" target="_blank" >NM6739: Molecular mechanism of hemoglobulin disorders in the Czech Republic</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2005

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Blood

ISSN

0006-4971

e-ISSN

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Volume of the periodical

105

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

6

Pages from-to

1337-1342

UT code for WoS article

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EID of the result in the Scopus database

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