From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes.

Abstract:

:A primary mitochondrial defect may be pivotal in the pathogenesis of acquired idiopathic sideroblastic anemia (AISA). The mitochondrial respiratory chain is involved in mitochondrial iron uptake and supply of ferrous iron (Fe2+) for heme synthesis. Mitochondrial DNA (mtDNA) comes into play because several subunits of the respiratory chain are encoded by the mitochondrial genome. We have identified heteroplasmic mutations of mtDNA, which may not only impair mitochondrial iron metabolism and heme synthesis, but through impairment of mitochondrial energy production may have much broader implications for MDS pathogenesis. For example, increased apoptosis and genetic instability may be phenomena linked to mitochondrial dysfunction.

journal_name

Leuk Res

journal_title

Leukemia research

authors

Gattermann N

doi

10.1016/s0145-2126(99)00160-5

keywords:

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

141-51

issue

2

eissn

0145-2126

issn

1873-5835

pii

S0145-2126(99)00160-5

journal_volume

24

pub_type

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