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Analysis of thiamine transporter genes in sporadic beriberi.

Identifieur interne : 000225 ( Main/Exploration ); précédent : 000224; suivant : 000226

Analysis of thiamine transporter genes in sporadic beriberi.

Auteurs : Valentina Bravatà [Italie] ; Luigi Minafra [Italie] ; Graziella Callari [Italie] ; Cecilia Gelfi [Italie] ; Luigi Maria Edoardo Grimaldi [Italie]

Source :

Nutrition (Burbank, Los Angeles County, Calif.) [ 1873-1244 ] ; 2014.

RBID : pubmed:24607307

Descripteurs français

KwdFr :
- Adulte (MeSH), Alcoolisme (MeSH), Béribéri (génétique), Béribéri (étiologie), Carence en thiamine (complications), Carence en thiamine (génétique), Humains (MeSH), Mutation (MeSH), Mâle (MeSH), Protéines de transport de la membrane mitochondriale (MeSH), Protéines de transport membranaire (génétique), Thiamine (génétique).
MESH :
- génétique : Béribéri, Carence en thiamine, Protéines de transport membranaire, Thiamine.
- étiologie : Béribéri.
- Adulte, Alcoolisme, Humains, Mutation, Mâle, Protéines de transport de la membrane mitochondriale.

English descriptors

KwdEn :
- Adult (MeSH), Alcoholism (MeSH), Beriberi (etiology), Beriberi (genetics), Humans (MeSH), Male (MeSH), Membrane Transport Proteins (genetics), Mitochondrial Membrane Transport Proteins (MeSH), Mutation (MeSH), Thiamine (genetics), Thiamine Deficiency (complications), Thiamine Deficiency (genetics).
MESH :
- chemical , genetics : Membrane Transport Proteins, Thiamine.
- complications : Thiamine Deficiency.
- etiology : Beriberi.
- genetics : Beriberi, Thiamine Deficiency.
- Adult, Alcoholism, Humans, Male, Mitochondrial Membrane Transport Proteins, Mutation.

Abstract

OBJECTIVE

Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3, and SLC25 A19, in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency.

METHODS

A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B1 serum levels, his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment, suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database.

RESULTS

Thirty-seven mutations were tested: 29 in SLC19 A2, 6 in SLC19 A3, and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated.

CONCLUSION

This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations, in the same genes or in other thiamine-associated genes, in the occurrence of this nutritional neuropathy.

DOI: 10.1016/j.nut.2013.10.008
PubMed: 24607307

Affiliations:

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Le document en format XML

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<author><name sortKey="Bravata, Valentina" sort="Bravata, Valentina" uniqKey="Bravata V" first="Valentina" last="Bravatà">Valentina Bravatà</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Analysis of thiamine transporter genes in sporadic beriberi.</title>
<author><name sortKey="Bravata, Valentina" sort="Bravata, Valentina" uniqKey="Bravata V" first="Valentina" last="Bravatà">Valentina Bravatà</name>
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<author><name sortKey="Minafra, Luigi" sort="Minafra, Luigi" uniqKey="Minafra L" first="Luigi" last="Minafra">Luigi Minafra</name>
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<country xml:lang="fr">Italie</country>
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<author><name sortKey="Gelfi, Cecilia" sort="Gelfi, Cecilia" uniqKey="Gelfi C" first="Cecilia" last="Gelfi">Cecilia Gelfi</name>
<affiliation wicri:level="3"><nlm:affiliation>Istituto di bioimmagini e fisiologia molecolare CNR-LATO, Cefalù PA, Scilly, Italy; Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.</nlm:affiliation>
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<region nuts="2">Lombardie</region>
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<author><name sortKey="Edoardo Grimaldi, Luigi Maria" sort="Edoardo Grimaldi, Luigi Maria" uniqKey="Edoardo Grimaldi L" first="Luigi Maria" last="Edoardo Grimaldi">Luigi Maria Edoardo Grimaldi</name>
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<series><title level="j">Nutrition (Burbank, Los Angeles County, Calif.)</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term>
<term>Alcoholism (MeSH)</term>
<term>Beriberi (etiology)</term>
<term>Beriberi (genetics)</term>
<term>Humans (MeSH)</term>
<term>Male (MeSH)</term>
<term>Membrane Transport Proteins (genetics)</term>
<term>Mitochondrial Membrane Transport Proteins (MeSH)</term>
<term>Mutation (MeSH)</term>
<term>Thiamine (genetics)</term>
<term>Thiamine Deficiency (complications)</term>
<term>Thiamine Deficiency (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term>
<term>Alcoolisme (MeSH)</term>
<term>Béribéri (génétique)</term>
<term>Béribéri (étiologie)</term>
<term>Carence en thiamine (complications)</term>
<term>Carence en thiamine (génétique)</term>
<term>Humains (MeSH)</term>
<term>Mutation (MeSH)</term>
<term>Mâle (MeSH)</term>
<term>Protéines de transport de la membrane mitochondriale (MeSH)</term>
<term>Protéines de transport membranaire (génétique)</term>
<term>Thiamine (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Transport Proteins</term>
<term>Thiamine</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Thiamine Deficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Beriberi</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Beriberi</term>
<term>Thiamine Deficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Béribéri</term>
<term>Carence en thiamine</term>
<term>Protéines de transport membranaire</term>
<term>Thiamine</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Béribéri</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Alcoholism</term>
<term>Humans</term>
<term>Male</term>
<term>Mitochondrial Membrane Transport Proteins</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Alcoolisme</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Protéines de transport de la membrane mitochondriale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p><b>OBJECTIVE</b>
</p>
<p>Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3, and SLC25 A19, in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency.</p>
</div>
<div type="abstract" xml:lang="en"><p><b>METHODS</b>
</p>
<p>A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B1 serum levels, his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment, suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database.</p>
</div>
<div type="abstract" xml:lang="en"><p><b>RESULTS</b>
</p>
<p>Thirty-seven mutations were tested: 29 in SLC19 A2, 6 in SLC19 A3, and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated.</p>
</div>
<div type="abstract" xml:lang="en"><p><b>CONCLUSION</b>
</p>
<p>This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations, in the same genes or in other thiamine-associated genes, in the occurrence of this nutritional neuropathy.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Italie</li>
</country>
<region><li>Lombardie</li>
</region>
<settlement><li>Milan</li>
</settlement>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Bravata, Valentina" sort="Bravata, Valentina" uniqKey="Bravata V" first="Valentina" last="Bravatà">Valentina Bravatà</name>
</noRegion>
<name sortKey="Callari, Graziella" sort="Callari, Graziella" uniqKey="Callari G" first="Graziella" last="Callari">Graziella Callari</name>
<name sortKey="Edoardo Grimaldi, Luigi Maria" sort="Edoardo Grimaldi, Luigi Maria" uniqKey="Edoardo Grimaldi L" first="Luigi Maria" last="Edoardo Grimaldi">Luigi Maria Edoardo Grimaldi</name>
<name sortKey="Gelfi, Cecilia" sort="Gelfi, Cecilia" uniqKey="Gelfi C" first="Cecilia" last="Gelfi">Cecilia Gelfi</name>
<name sortKey="Minafra, Luigi" sort="Minafra, Luigi" uniqKey="Minafra L" first="Luigi" last="Minafra">Luigi Minafra</name>
</country>
</tree>
</affiliations>
</record>

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Analysis of thiamine transporter genes in sporadic beriberi.

Analysis of thiamine transporter genes in sporadic beriberi.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki