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. 2020 Feb 4;130(3):1446–1452. doi: 10.1172/JCI132360

Figure 4. Mthfr deletion in Gldc-deficient mice normalizes development of the aqueduct, subcommisural organ, and pineal gland.

Figure 4

(A) Outline of folate and methionine cycles, with key outputs in green text and relevant enzymes in blue text. Lack of Mthfr activity prevents transfer of 1-carbon units from 5,10-methylene THF to the methionine cycle via 5-methyl THF. (B) Among offspring of GldcGT2/+ Mthfr+/– intercrosses, ventriculomegaly was not detected at E18.5 in GldcGT2/GT2 Mthfr–/– fetuses (n = 5), but occurred at high frequency among GldcGT2/GT2 fetuses that were heterozygous (n = 7) or wild type (n =2) for Mthfr (P < 0.025 by Fisher’s exact test). (C–E) Sections of E15.5 wild-type (C), GldcGT2/GT2 (D), and GldcGT2/GT2 Mthfr–/– (E) brains showing that absence of Mthfr restores the wild-type appearance of the pineal gland, subcommissural organ, and aqueduct, and prevents ventriculomegaly, in Gldc-null fetuses. Scale bars: 1 mm.