Mitochondrial folate transporter explained
| Mitochondrial folate transporter |
| Altnames: | Solute carrier family 25, member 32 |
| Symbol: | MFT |
| Altsymbols: | SLC25A32 |
| Omim: | 138480 |
| Chromosome: | 8 |
| Arm: | q |
| Band: | 22.3 |
The mitochondrial folate transporter (MTF) is a transport protein that facilitates the transfer of tetrahydrofolate across the inner mitochondrial membrane. It is encoded by the SLC25A32 gene and belongs to the mitochondrial carrier superfamily.
History
The mitochondrial folate transporter was first described in 2000.[1]
Role in pathology
Mutations of the SLC25A32 gene cause the condition putatively called "riboflavin-responsive exercise intolerance" (RREI), also known as SLC25A32 deficiency. The first case report linking this condition to SLC25A32 was published in 2016.[2] Several additional cases of SLC25A32 deficiency have been described since.[3] [4] The phenotype of the patients is reminiscent of multiple acyl-CoA dehydrogenase deficiency (MADD).
According to a review published in 2020, mutations of the SLC25A32 gene have been shown to cause neural tube defects in mice, and they have been associated with several human cases, based on a re-sequencing of DNA of patients with neural tube defects.[5]
Notes and References
- Titus SA, Moran RG . Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria . The Journal of Biological Chemistry . 275 . 47 . 36811–7 . November 2000 . 10978331 . 10.1074/jbc.M005163200 . free .
- Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C . SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance . The New England Journal of Medicine . 374 . 8 . 795–7 . February 2016 . 26933868 . 4867164 . 10.1056/NEJMc1513610 .
- Hellebrekers DM, Sallevelt SC, Theunissen TE, Hendrickx AT, Gottschalk RW, Hoeijmakers JG, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJ . Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype . European Journal of Human Genetics . 25 . 7 . 886–888 . June 2017 . 28443623 . 5520074 . 10.1038/ejhg.2017.62 .
- Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K . Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency . European Journal of Human Genetics . 30. 8. 976–979. November 2021 . 34764427 . 10.1038/s41431-021-00995-7 . 9349259 .
- Steele JW, Kim SE, Finnell RH . One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects? . Biochimie . 173 . 27–32 . June 2020 . 32061804 . 7253344 . 10.1016/j.biochi.2020.02.005 .
