Impaired iPLA2β activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA2β activity as the cause of iron deposition in PLAN

Guo, Yu-pei; Tang, Beisha; Liu, Hongli; Huang, Juanjuan; Xu, Qian; Sun, Qiying; Yan, Xinxiang; Guo, Jifeng

doi:10.1016/j.brainres.2019.01.036

Cited by 5 publications

(3 citation statements)

References 46 publications

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“…We found no difference in hypointense signal in bilateral basal ganglia between patient and controls indicated that the PLA2G6 mutant PD patient had no obvious iron deposit. Guo et al (36) found that decreased iPLA2β activity might cause decreased uptake activity and increased iron storage activity, but didn't lead to iron accumulation. We assume that PLA2G6 mutation may not be the main cause of iron accumulation of PD.…”

Section: Discussionmentioning

confidence: 99%

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review

Shen

Jiang

et al. 2019

Front. Neurol.

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PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by PLA2G6 gene mutation, and performed neurological examination, genetic analysis, and multimodal neuroimaging to describe this phenotype. A compound heterozygous mutation c.991G>T/c.1472+1G>A was detected in this patient. Heterozygous for the c.991G>T and c.1472+1G>A were separately detected in his parents. Pathogenicity of these two mutations were predicted according to the American college of medical genetics and genomics (ACMG) guideline. MRI assessment showed absence of bilateral “swallow tail sign” and cerebellar atrophy in this patient, while no obvious difference in brain iron accumulation between PLA2G6 mutant PD patient and healthy controls. Cerebellar abnormalities may be a marker for diagnosis and evaluation of PLA2G6 mutation Parkinsonism. However, the iron accumulation in PD may not be the result of PLA2G6 mutation.

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Section: Discussionmentioning

confidence: 99%

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review

Shen

Jiang

et al. 2019

Front. Neurol.

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“…However, the expression of FPN1 (an iron export protein) and DMT1 (an iron uptake protein) remained unchanged. 78 Therefore, inhibition or reduced expression of iPLA 2 β plays a vital role in ROS-induced ferroptosis without affecting normal…”

Section: Interplay Between Endogenous Formaldehyde and Ferroptosismentioning

confidence: 99%

“…These changes were associated with higher expression levels of the ferritin (heavy and light chains) and lower expression levels of TFR1. However, the expression of FPN1 (an iron export protein) and DMT1 (an iron uptake protein) remained unchanged 78 . Therefore, inhibition or reduced expression of iPLA 2 β plays a vital role in ROS‐induced ferroptosis without affecting normal tissue development or cell viability.…”

Section: Ferroptosis In the Pathogenesis Of Pdmentioning

confidence: 99%