Table 1 NBIA-related genes investigated in the Hfe−/−× Tfr2mut mouse brain
Gene name and symbol | Proposed roles of encoded protein | Fold change by array (P-value) | NBIA type | Psychiatric abnormality or cognitive impairment | Iron abnormality | Myelin abnormality |
|---|---|---|---|---|---|---|
Phospholipase A2, group VI (Pla2g6) | Fatty acid release from phospholipids | ↓1.60 (0.010) | PLAN | Yes | MRI | MRI |
Fatty acid 2-hydroxylase (Fa2h) | 2-Hydroxy sphingolipid synthesis | ↓1.41 (0.002) | FAHN | Yes | MRI | MRI, animal study |
Ceruloplasmin (Cp) | Oxidation of Fe(II) to Fe(III) | ↓1.35 (0.013) | Aceruloplasminemia | Yes | MRI, post-mortem, animal study | No |
Chromosome 19 open reading frame 12 (C19orf12) | Fatty acid biogenesis | ↓1.28 (0.023) | MPAN | Yes | MRI, post-mortem | MRI |
ATPase type 13A2 (Atp13a2) | Ceramide synthesis in lysosome, phospholipid distribution in myelin | ↓1.17 (0.047) | Kufor–Rakeb disease | Yes | MRI | Biopsy |
Ferritin, light polypeptide (Ftl) | Iron storage | ↑2.3 (0.0005)a | Ferritinopathy | Yes | MRI, animal model | Post-mortem |
Pantothenate kinase 2 (Pank2) | Biosynthesis of CoA | NS | PKAN | Yes | MRI, post-mortem | No |
CoA synthase (Coasy) | Biosynthesis of CoA from pantothenic acid | NS | CoPAN | Yes | MRI | NA |
WD repeat domain 45 (Wdr45) | Autophagy | NS | BPAN | Yes | MRI | MRI |
DDB1 and CUL4 associated factor 17 (Dcaf17) | Ubiquitin ligase | NS | Woodhouse–Sakati syndrome | Yes | MRI | MRI |
