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; 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, Morten H DziegielMatthew M Heeney, Alison May, Sylvia S Bottomley, Dorine W Swinkels, Kyriacos Markianos, Elizabeth A Craig, Mark D Fleming

64 Citationer (Scopus)

Abstract

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases, characterized by defects in mitochondrial heme synthesis, iron-sulfur cluster (Fe-S) biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homologue located in the 5q- 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 one severe loss-of-function allele, expression of the clinical phenotype is associated with a common cSNP in trans that correlates with reduced mRNA expression and results in a pseudo-dominant pattern of inheritance.

Originalsprog	Engelsk
Tidsskrift	Blood
Sider (fra-til)	2434-38
ISSN	0006-4971
DOI	https://doi.org/10.1182/blood-2015-09-659854
Status	Udgivet - 21 okt. 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, 2434-38. 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, 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, s. 2434-38. https://doi.org/10.1182/blood-2015-09-659854

@article{6050bc347b6f4df3bd319f870118f9ae,

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 cluster (Fe-S) biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homologue located in the 5q- 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 one severe loss-of-function allele, expression of the clinical phenotype is associated with a common cSNP in trans that correlates with reduced mRNA expression and results in a pseudo-dominant 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 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}",

note = "Copyright {\textcopyright} 2015 American Society of Hematology.",

year = "2015",

month = oct,

day = "21",

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

language = "English",

pages = "2434--38",

journal = "Blood",

issn = "0006-4971",

publisher = "American Society of Hematology",

}

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 - 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 - 2015/10/21

Y1 - 2015/10/21

N2 - The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases, characterized by defects in mitochondrial heme synthesis, iron-sulfur cluster (Fe-S) biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homologue located in the 5q- 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 one severe loss-of-function allele, expression of the clinical phenotype is associated with a common cSNP in trans that correlates with reduced mRNA expression and results in a pseudo-dominant pattern of inheritance.

AB - The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases, characterized by defects in mitochondrial heme synthesis, iron-sulfur cluster (Fe-S) biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homologue located in the 5q- 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 one severe loss-of-function allele, expression of the clinical phenotype is associated with a common cSNP in trans that correlates with reduced mRNA expression and results in a pseudo-dominant pattern of inheritance.

U2 - 10.1182/blood-2015-09-659854

DO - 10.1182/blood-2015-09-659854

M3 - Journal article

C2 - 26491070

SN - 0006-4971

SP - 2434

EP - 2438

JO - Blood

JF - Blood

ER -

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

Abstract

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