Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Sep 21;218(11):e20210846. doi: 10.1084/jem.20210846

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© 2021 Pujol et al.

This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).

PMC Copyright notice

Figure 3. — Folate implication in disease. (A) Schematic representation of FAD/FMN implications in mitochondria. A, FAD; M, FMN; MTR, methionine synthase reductase; THF, tetrahydrofolate; VitB2, vitamin B2. (B) Folate measurement in the plasma of mice (data pooled from at least three independent experiments with n = 16/genotype). (C) Head CT and brain MRI scans of five SPG56 patients. CT of patient 4 at 1 yr of age (a) showing subcortical calcifications with nodular and linear shape in frontal, parietal, and occipital lobes (arrows). Brain MRI (b–d) of the same patient at age 15. Pathological hypersignal in magnetization transfer T1 axial sequence (b) in bilateral pallidus (arrows), coupled with T2* hyposignal in the same region (c), suggestive of calcium deposition (arrows). Axial FLAIR sequences evidence confluent hyperintensities in deep periventricular white matter (d) with a radial distribution with respect to the lateral ventricles (arrowheads). Larger and confluent calcifications are evident in the brain CT (e) of his sibling (patient 3) at age 2 yr, especially in subcortical white matter at the level of the frontal and occipital horns (arrows). Head CT of patient 13 (f and g) at age 9 yr showing millimetric subcortical calcifications in left frontal and parietal lobes (arrows). Axial FLAIR sequence from brain MRI of patient 12 (h) at age 9 yr showing a nodular white matter hyperintensity in the right frontal lobe (arrowhead). Head CT of patient 12 at age 26 yr (i and j) evidencing minute cortico-subcortical calcifications in frontal lobes and massive confluent calcifications involving the lenticular nucleus bilaterally (arrows). Brain MRI of patient 2 at different time points (k–o). Bilateral pallidal hyposignal, likely due to calcifications, at age 37 yr (axial T2* sequence; k, arrows), along with deep periventricular white matter hyperintensities (axial FLAIR sequence; l, arrowheads), increasing in size and number over time, as seen at age 44 yr (axial FLAIR sequence; m, arrowheads). Moderate cortical atrophy, most notably at frontal level (axial T1 sequence; n), and significant cerebellar atrophy (sagittal T1 sequence; o) were clearly evident at age 44 yr as well (arrows). (D) Spontaneous alternation behavior in the Y-Maze task by 2-mo-old mice complemented with folate. Data pooled from at least two independent experiments with n = 11/genotype. Folate supplementation improved this behavior in Cyp2u1⁻^/⁻ animals only with n (%) spontaneous alternation behavior in Cyp2u1⁻^/⁻ mice without folate complementation. Values are mean ± SEM.