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Abnormal iron deposition in mitochondria

MedGen UID:
462906
•Concept ID:
C3151556
•
Finding
HPO: HP:0008306

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal iron deposition in mitochondria

Conditions with this feature

Hereditary myopathy with lactic acidosis due to ISCU deficiency
MedGen UID:
342573
•Concept ID:
C1850718
•
Disease or Syndrome
Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).
See: Condition Record
Hereditary myopathy with lactic acidosis due to ISCU deficiency

Recent clinical studies

Etiology

Causes and Pathophysiology of Acquired Sideroblastic Anemia.
Rodriguez-Sevilla JJ, Calvo X, Arenillas L
Genes (Basel) 2022 Aug 30;13(9) doi: 10.3390/genes13091562. PMID: 36140729Free PMC Article
Iron Pathophysiology in Alzheimer's Diseases.
Wang T, Xu SF, Fan YG, Li LB, Guo C
Adv Exp Med Biol 2019;1173:67-104. doi: 10.1007/978-981-13-9589-5_5. PMID: 31456206
Effect of excess iron on oxidative stress and gluconeogenesis through hepcidin during mitochondrial dysfunction.
Lee HJ, Choi JS, Lee HJ, Kim WH, Park SI, Song J
J Nutr Biochem 2015 Dec;26(12):1414-23. Epub 2015 Jul 29 doi: 10.1016/j.jnutbio.2015.07.008. PMID: 26383538
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Poli M, Derosas M, Luscieti S, Cavadini P, Campanella A, Verardi R, Finazzi D, Arosio P
Neurobiol Dis 2010 Aug;39(2):204-10. Epub 2010 Apr 23 doi: 10.1016/j.nbd.2010.04.009. PMID: 20399859
Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.
Pandolfo M
Blood Cells Mol Dis 2002 Nov-Dec;29(3):536-47; discussion 548-52. doi: 10.1006/bcmd.2002.0591. PMID: 12547248

Diagnosis

Causes and Pathophysiology of Acquired Sideroblastic Anemia.
Rodriguez-Sevilla JJ, Calvo X, Arenillas L
Genes (Basel) 2022 Aug 30;13(9) doi: 10.3390/genes13091562. PMID: 36140729Free PMC Article
Mechanism of Developmental Effects in Rats Caused by an N-Phenylimide Herbicide: Transient Fetal Anemia and Sequelae during Mid-to-Late Gestation.
Kawamura S, Yoshioka T, Mito N, Kishimoto N, Nakaoka M, Fantel AG
Birth Defects Res B Dev Reprod Toxicol 2016 Feb;107(1):45-59. Epub 2016 Feb 10 doi: 10.1002/bdrb.21172. PMID: 26865470
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.
Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, Powers JM
J Neuropathol Exp Neurol 2005 Apr;64(4):280-94. doi: 10.1093/jnen/64.4.280. PMID: 15835264
Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.
Pandolfo M
Blood Cells Mol Dis 2002 Nov-Dec;29(3):536-47; discussion 548-52. doi: 10.1006/bcmd.2002.0591. PMID: 12547248
A newly established neuronal rho-0 cell line highly susceptible to oxidative stress accumulates iron and other metals. Relevance to the origin of metal ion deposits in brains with neurodegenerative disorders.
Fukuyama R, Nakayama A, Nakase T, Toba H, Mukainaka T, Sakaguchi H, Saiwaki T, Sakurai H, Wada M, Fushiki S
J Biol Chem 2002 Nov 1;277(44):41455-62. Epub 2002 Aug 22 doi: 10.1074/jbc.M204176200. PMID: 12194972

Therapy

Mitochondrial Iron Accumulation in Parietal and Chief Cells in Iron Pill Gastritis Following Billroth II Gastrectomy: Case Report Including Electron Microscopic Examination.
Shafique K, Araujo JL, Veluvolu R, Cassai N, Desoto-Lapaix F, Pincus MR, Wieczorek RL
Ann Clin Lab Sci 2017 May;47(3):354-356. PMID: 28667040

Prognosis

Mechanism of Developmental Effects in Rats Caused by an N-Phenylimide Herbicide: Transient Fetal Anemia and Sequelae during Mid-to-Late Gestation.
Kawamura S, Yoshioka T, Mito N, Kishimoto N, Nakaoka M, Fantel AG
Birth Defects Res B Dev Reprod Toxicol 2016 Feb;107(1):45-59. Epub 2016 Feb 10 doi: 10.1002/bdrb.21172. PMID: 26865470

Clinical prediction guides

Ferrostatin-1 inhibits fibroblast fibrosis in keloid by inhibiting ferroptosis.
Yang L, Li X, Wang Y
PeerJ 2024;12:e17551. Epub 2024 Jun 14 doi: 10.7717/peerj.17551. PMID: 38887622Free PMC Article
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson SD, Schubert F, Deschauer M, Els A, Ittermann B, Schottmann G, Madai VI, Paul F, Klopstock T, Kmiec T, Niendorf T, Wuerfel J, Schneider SA
Mov Disord 2020 Jan;35(1):142-150. Epub 2019 Sep 13 doi: 10.1002/mds.27827. PMID: 31518459
Mechanism of Developmental Effects in Rats Caused by an N-Phenylimide Herbicide: Transient Fetal Anemia and Sequelae during Mid-to-Late Gestation.
Kawamura S, Yoshioka T, Mito N, Kishimoto N, Nakaoka M, Fantel AG
Birth Defects Res B Dev Reprod Toxicol 2016 Feb;107(1):45-59. Epub 2016 Feb 10 doi: 10.1002/bdrb.21172. PMID: 26865470
Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation.
Poli M, Derosas M, Luscieti S, Cavadini P, Campanella A, Verardi R, Finazzi D, Arosio P
Neurobiol Dis 2010 Aug;39(2):204-10. Epub 2010 Apr 23 doi: 10.1016/j.nbd.2010.04.009. PMID: 20399859
A newly established neuronal rho-0 cell line highly susceptible to oxidative stress accumulates iron and other metals. Relevance to the origin of metal ion deposits in brains with neurodegenerative disorders.
Fukuyama R, Nakayama A, Nakase T, Toba H, Mukainaka T, Sakaguchi H, Saiwaki T, Sakurai H, Wada M, Fushiki S
J Biol Chem 2002 Nov 1;277(44):41455-62. Epub 2002 Aug 22 doi: 10.1074/jbc.M204176200. PMID: 12194972

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