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Research on plants for the understanding of diseases of nuclear and mitochondrial origin.

Spampinato CP, Gomez-Casati DF - J. Biomed. Biotechnol. (2012)

Bottom Line: Different model organisms, such as Escherichia coli, Saccharomyces cerevisiae, Caenorhabditis elegans, Drosophila melanogaster, mouse, cultured human cell lines, among others, were used to study the mechanisms of several human diseases.Since human genes and proteins have been structurally and functionally conserved in plant organisms, the use of plants, especially Arabidopsis thaliana, as a model system to relate molecular defects to clinical disorders has recently increased.Here, we briefly review our current knowledge of human diseases of nuclear and mitochondrial origin and summarize the experimental findings of plant homologs implicated in each process.

View Article: PubMed Central - PubMed

Affiliation: Centro de Estudios Fotosintéticos y Bioquímicos-CEFOBI-CONICET, Universidad Nacional de Rosario, Suipacha 531, 2000 Rosario, Argentina. spampinato@cefobi-conicet.gov.ar

ABSTRACT
Different model organisms, such as Escherichia coli, Saccharomyces cerevisiae, Caenorhabditis elegans, Drosophila melanogaster, mouse, cultured human cell lines, among others, were used to study the mechanisms of several human diseases. Since human genes and proteins have been structurally and functionally conserved in plant organisms, the use of plants, especially Arabidopsis thaliana, as a model system to relate molecular defects to clinical disorders has recently increased. Here, we briefly review our current knowledge of human diseases of nuclear and mitochondrial origin and summarize the experimental findings of plant homologs implicated in each process.

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Related in: MedlinePlus

Sequence alignment of frataxin homologues from different organisms. The amino acid sequence of Homo sapiens (accession no. Q16595), Mus musculus (accession no. O35943), Bos taurus (accession number NP_001074196.1), Drosophila melanogaster (accession no. Q9w385), Caenorhabditis elegans (accession no. Q9TY03), Saccharomyces cerevisiae (accession no. Q07540), Arabidopsis thaliana (accession no. NP_192233.2), Triticum aestivum (accession no. CN010373), Oryza sativa, (accession no. BE040598), and Zea mays (accession no. CA830057) is shown. Alignment was performed by using the CLUSTALW2 method (Protein Weight Matrix Blosum, clustering NJ) (http://www.ebi.ac.uk/Tools/msa/clustalw2/). Identical residues (*) are marked in black, and conserved substitutions (:) are shaded in gray.
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fig1: Sequence alignment of frataxin homologues from different organisms. The amino acid sequence of Homo sapiens (accession no. Q16595), Mus musculus (accession no. O35943), Bos taurus (accession number NP_001074196.1), Drosophila melanogaster (accession no. Q9w385), Caenorhabditis elegans (accession no. Q9TY03), Saccharomyces cerevisiae (accession no. Q07540), Arabidopsis thaliana (accession no. NP_192233.2), Triticum aestivum (accession no. CN010373), Oryza sativa, (accession no. BE040598), and Zea mays (accession no. CA830057) is shown. Alignment was performed by using the CLUSTALW2 method (Protein Weight Matrix Blosum, clustering NJ) (http://www.ebi.ac.uk/Tools/msa/clustalw2/). Identical residues (*) are marked in black, and conserved substitutions (:) are shaded in gray.

Mentions: This disorder is caused by a GAA triplet expansion, and/or a point mutation in the FA gene, resulting in a deficiency in the expression of frataxin [122, 129, 130]. Frataxin is a nuclear-encoded mitochondrial protein highly conserved across the evolution and with homologues found in prokaryotes and eukaryotes (Figure 1). This protein is predominantly expressed in tissues with a high energetic demand such as neurons and cardiac muscle [131, 132]. In addition, frataxin is highly expressed in flowers, a high energy demand tissue in plants [133]. The function of frataxin has not been established yet, but its deficiency was associated with oxidative stress, iron accumulation, decrease activities of several Fe-S containing proteins and a deficiency in oxidative phosphorylation [129, 134–140]. In addition, it was recently described that frataxin would participate in heme metabolism [141–143].


Research on plants for the understanding of diseases of nuclear and mitochondrial origin.

Spampinato CP, Gomez-Casati DF - J. Biomed. Biotechnol. (2012)

Sequence alignment of frataxin homologues from different organisms. The amino acid sequence of Homo sapiens (accession no. Q16595), Mus musculus (accession no. O35943), Bos taurus (accession number NP_001074196.1), Drosophila melanogaster (accession no. Q9w385), Caenorhabditis elegans (accession no. Q9TY03), Saccharomyces cerevisiae (accession no. Q07540), Arabidopsis thaliana (accession no. NP_192233.2), Triticum aestivum (accession no. CN010373), Oryza sativa, (accession no. BE040598), and Zea mays (accession no. CA830057) is shown. Alignment was performed by using the CLUSTALW2 method (Protein Weight Matrix Blosum, clustering NJ) (http://www.ebi.ac.uk/Tools/msa/clustalw2/). Identical residues (*) are marked in black, and conserved substitutions (:) are shaded in gray.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3368588&req=5

fig1: Sequence alignment of frataxin homologues from different organisms. The amino acid sequence of Homo sapiens (accession no. Q16595), Mus musculus (accession no. O35943), Bos taurus (accession number NP_001074196.1), Drosophila melanogaster (accession no. Q9w385), Caenorhabditis elegans (accession no. Q9TY03), Saccharomyces cerevisiae (accession no. Q07540), Arabidopsis thaliana (accession no. NP_192233.2), Triticum aestivum (accession no. CN010373), Oryza sativa, (accession no. BE040598), and Zea mays (accession no. CA830057) is shown. Alignment was performed by using the CLUSTALW2 method (Protein Weight Matrix Blosum, clustering NJ) (http://www.ebi.ac.uk/Tools/msa/clustalw2/). Identical residues (*) are marked in black, and conserved substitutions (:) are shaded in gray.
Mentions: This disorder is caused by a GAA triplet expansion, and/or a point mutation in the FA gene, resulting in a deficiency in the expression of frataxin [122, 129, 130]. Frataxin is a nuclear-encoded mitochondrial protein highly conserved across the evolution and with homologues found in prokaryotes and eukaryotes (Figure 1). This protein is predominantly expressed in tissues with a high energetic demand such as neurons and cardiac muscle [131, 132]. In addition, frataxin is highly expressed in flowers, a high energy demand tissue in plants [133]. The function of frataxin has not been established yet, but its deficiency was associated with oxidative stress, iron accumulation, decrease activities of several Fe-S containing proteins and a deficiency in oxidative phosphorylation [129, 134–140]. In addition, it was recently described that frataxin would participate in heme metabolism [141–143].

Bottom Line: Different model organisms, such as Escherichia coli, Saccharomyces cerevisiae, Caenorhabditis elegans, Drosophila melanogaster, mouse, cultured human cell lines, among others, were used to study the mechanisms of several human diseases.Since human genes and proteins have been structurally and functionally conserved in plant organisms, the use of plants, especially Arabidopsis thaliana, as a model system to relate molecular defects to clinical disorders has recently increased.Here, we briefly review our current knowledge of human diseases of nuclear and mitochondrial origin and summarize the experimental findings of plant homologs implicated in each process.

View Article: PubMed Central - PubMed

Affiliation: Centro de Estudios Fotosintéticos y Bioquímicos-CEFOBI-CONICET, Universidad Nacional de Rosario, Suipacha 531, 2000 Rosario, Argentina. spampinato@cefobi-conicet.gov.ar

ABSTRACT
Different model organisms, such as Escherichia coli, Saccharomyces cerevisiae, Caenorhabditis elegans, Drosophila melanogaster, mouse, cultured human cell lines, among others, were used to study the mechanisms of several human diseases. Since human genes and proteins have been structurally and functionally conserved in plant organisms, the use of plants, especially Arabidopsis thaliana, as a model system to relate molecular defects to clinical disorders has recently increased. Here, we briefly review our current knowledge of human diseases of nuclear and mitochondrial origin and summarize the experimental findings of plant homologs implicated in each process.

Show MeSH
Related in: MedlinePlus