Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Klaus Schmitz-Abe; Szymon J. Ciesielski; Paul J. Schmidt; Dean R. Campagna; Fedik Rahimov; Brenda A. Schilke; Marloes Cuijpers; Klaus Rieneck; Birgitte Lausen; Michael L. Linenberger; Anoop K. Sendamarai; Chaoshe Guo; Inga Hofmann; Peter E. Newburger; Dana Matthews; Akiko Shimamura; Pieter J.L.M. Snijders; Meghan C. Towne; Charlotte M. Niemeyer; Henry G. Watson; Morten H. Dziegiel; Matthew M. Heeney; Alison May; Sylvia S. Bottomley; Dorine W. Swinkels; Kyriacos Markianos; Elizabeth A. Craig; Mark D. Fleming

doi:10.1182/blood-2015-09-659854

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Klaus Schmitz-Abe, Szymon J. Ciesielski, Paul J. Schmidt, Dean R. Campagna, Fedik Rahimov, Brenda A. Schilke, Marloes Cuijpers, Klaus Rieneck, Birgitte Lausen, Michael L. Linenberger, Anoop K. Sendamarai, Chaoshe Guo, Inga Hofmann, Peter E. Newburger, Dana Matthews, Akiko Shimamura, Pieter J.L.M. Snijders, Meghan C. Towne, Charlotte M. Niemeyer, Henry G. WatsonMorten H. Dziegiel, Matthew M. Heeney, Alison May, Sylvia S. Bottomley, Dorine W. Swinkels, Kyriacos Markianos, Elizabeth A. Craig, Mark D. Fleming^*

^*Corresponding author af dette arbejde

Institut for Klinisk Medicin

40 Citationer (Scopus)

Abstract

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.

Originalsprog	Engelsk
Tidsskrift	Blood
Vol/bind	126
Udgave nummer	25
Sider (fra-til)	2734-2738
ISSN	0006-4971
DOI	https://doi.org/10.1182/blood-2015-09-659854
Status	Udgivet - 2015

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10.1182/blood-2015-09-659854

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Schmitz-Abe, K., Ciesielski, S. J., Schmidt, P. J., Campagna, D. R., Rahimov, F., Schilke, B. A., Cuijpers, M., Rieneck, K., Lausen, B., Linenberger, M. L., Sendamarai, A. K., Guo, C., Hofmann, I., Newburger, P. E., Matthews, D., Shimamura, A., Snijders, P. J. L. M., Towne, M. C., Niemeyer, C. M., ... Fleming, M. D. (2015). Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood, 126(25), 2734-2738. https://doi.org/10.1182/blood-2015-09-659854

Schmitz-Abe, K, Ciesielski, SJ, Schmidt, PJ, Campagna, DR, Rahimov, F, Schilke, BA, Cuijpers, M, Rieneck, K, Lausen, B, Linenberger, ML, Sendamarai, AK, Guo, C, Hofmann, I, Newburger, PE, Matthews, D, Shimamura, A, Snijders, PJLM, Towne, MC, Niemeyer, CM, Watson, HG, Dziegiel, MH, Heeney, MM, May, A, Bottomley, SS, Swinkels, DW, Markianos, K, Craig, EA & Fleming, MD 2015, 'Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9', Blood, bind 126, nr. 25, s. 2734-2738. https://doi.org/10.1182/blood-2015-09-659854

@article{f0cc6c5cd6224fbebb446572af3ec626,

title = "Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9",

abstract = "The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.",

author = "Klaus Schmitz-Abe and Ciesielski, {Szymon J.} and Schmidt, {Paul J.} and Campagna, {Dean R.} and Fedik Rahimov and Schilke, {Brenda A.} and Marloes Cuijpers and Klaus Rieneck and Birgitte Lausen and Linenberger, {Michael L.} and Sendamarai, {Anoop K.} and Chaoshe Guo and Inga Hofmann and Newburger, {Peter E.} and Dana Matthews and Akiko Shimamura and Snijders, {Pieter J.L.M.} and Towne, {Meghan C.} and Niemeyer, {Charlotte M.} and Watson, {Henry G.} and Dziegiel, {Morten H.} and Heeney, {Matthew M.} and Alison May and Bottomley, {Sylvia S.} and Swinkels, {Dorine W.} and Kyriacos Markianos and Craig, {Elizabeth A.} and Fleming, {Mark D.}",

year = "2015",

doi = "10.1182/blood-2015-09-659854",

language = "English",

volume = "126",

pages = "2734--2738",

journal = "Blood",

issn = "0006-4971",

publisher = "American Society of Hematology",

number = "25",

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TY - JOUR

T1 - Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

AU - Schmitz-Abe, Klaus

AU - Ciesielski, Szymon J.

AU - Schmidt, Paul J.

AU - Campagna, Dean R.

AU - Rahimov, Fedik

AU - Schilke, Brenda A.

AU - Cuijpers, Marloes

AU - Rieneck, Klaus

AU - Lausen, Birgitte

AU - Linenberger, Michael L.

AU - Sendamarai, Anoop K.

AU - Guo, Chaoshe

AU - Hofmann, Inga

AU - Newburger, Peter E.

AU - Matthews, Dana

AU - Shimamura, Akiko

AU - Snijders, Pieter J.L.M.

AU - Towne, Meghan C.

AU - Niemeyer, Charlotte M.

AU - Watson, Henry G.

AU - Dziegiel, Morten H.

AU - Heeney, Matthew M.

AU - May, Alison

AU - Bottomley, Sylvia S.

AU - Swinkels, Dorine W.

AU - Markianos, Kyriacos

AU - Craig, Elizabeth A.

AU - Fleming, Mark D.

PY - 2015

Y1 - 2015

N2 - The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.

AB - The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.

U2 - 10.1182/blood-2015-09-659854

DO - 10.1182/blood-2015-09-659854

M3 - Journal article

C2 - 26491070

AN - SCOPUS:84951299063

SN - 0006-4971

VL - 126

SP - 2734

EP - 2738

JO - Blood

JF - Blood

IS - 25

ER -

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Abstract

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