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Mitochondrial substrate carrier disorder

MedGen UID:
1842923
•Concept ID:
C5680716
•
Disease or Syndrome
Synonym: mitochondrial substrate carrier disorder
 
Monarch Initiative: MONDO:0016801
Orphanet: ORPHA254830

Professional guidelines

PubMed

Complex disease-associated pharmacogenetics: drug efficacy, drug safety, and confirmation of a pathogenetic hypothesis (Alzheimer's disease).
Roses AD, Saunders AM, Huang Y, Strum J, Weisgraber KH, Mahley RW
Pharmacogenomics J 2007 Feb;7(1):10-28. Epub 2006 Jun 13 doi: 10.1038/sj.tpj.6500397. PMID: 16770341
Genetic disorders of carnitine metabolism and their nutritional management.
Kerner J, Hoppel C
Annu Rev Nutr 1998;18:179-206. doi: 10.1146/annurev.nutr.18.1.179. PMID: 9706223

Recent clinical studies

Etiology

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F, Scarcia P, Monné M
Biomolecules 2020 Apr 23;10(4) doi: 10.3390/biom10040655. PMID: 32340404Free PMC Article
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, McConville MJ, Thorburn DR, Ryan MT, Stojanovski D
Mol Cell 2017 Aug 3;67(3):457-470.e5. Epub 2017 Jul 14 doi: 10.1016/j.molcel.2017.06.014. PMID: 28712726
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC, Sesti G
Mol Diagn Ther 2012 Oct;16(5):285-302. doi: 10.1007/s40291-012-0002-7. PMID: 23018631
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders.
Huizing M, Ruitenbeek W, van den Heuvel LP, Dolce V, Iacobazzi V, Smeitink JA, Palmieri F, Trijbels JM
J Bioenerg Biomembr 1998 Jun;30(3):277-84. doi: 10.1023/a:1020501021222. PMID: 9733094
Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease.
Jolly RD, Martinus RD, Palmer DN
Am J Med Genet 1992 Feb 15;42(4):609-14. doi: 10.1002/ajmg.1320420436. PMID: 1535180

Diagnosis

Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS.
Wang J, Napoli E, Kim K, McLennan YA, Hagerman RJ, Giulivi C
Int J Mol Sci 2021 Aug 25;22(17) doi: 10.3390/ijms22179171. PMID: 34502080Free PMC Article
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P
Hum Mol Genet 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305. PMID: 30452684Free PMC Article
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
Citrate--new functions for an old metabolite.
Iacobazzi V, Infantino V
Biol Chem 2014 Apr;395(4):387-99. doi: 10.1515/hsz-2013-0271. PMID: 24445237
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC, Sesti G
Mol Diagn Ther 2012 Oct;16(5):285-302. doi: 10.1007/s40291-012-0002-7. PMID: 23018631

Therapy

A pyruvate dehydrogenase complex disorder hypothesis for bipolar disorder.
Campbell I, Campbell H
Med Hypotheses 2019 Sep;130:109263. Epub 2019 Jun 8 doi: 10.1016/j.mehy.2019.109263. PMID: 31383331
Mitochondrial biology, targets, and drug delivery.
Milane L, Trivedi M, Singh A, Talekar M, Amiji M
J Control Release 2015 Jun 10;207:40-58. Epub 2015 Apr 1 doi: 10.1016/j.jconrel.2015.03.036. PMID: 25841699
Tau-aggregation inhibitor therapy for Alzheimer's disease.
Wischik CM, Harrington CR, Storey JM
Biochem Pharmacol 2014 Apr 15;88(4):529-39. Epub 2013 Dec 19 doi: 10.1016/j.bcp.2013.12.008. PMID: 24361915
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC, Sesti G
Mol Diagn Ther 2012 Oct;16(5):285-302. doi: 10.1007/s40291-012-0002-7. PMID: 23018631
Genetic disorders of carnitine metabolism and their nutritional management.
Kerner J, Hoppel C
Annu Rev Nutr 1998;18:179-206. doi: 10.1146/annurev.nutr.18.1.179. PMID: 9706223

Prognosis

Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import.
Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC, Birsoy K, Gamazon ER
Nat Genet 2024 Aug;56(8):1614-1623. Epub 2024 Jul 8 doi: 10.1038/s41588-024-01827-2. PMID: 38977856
Sequence Features of Mitochondrial Transporter Protein Families.
Gyimesi G, Hediger MA
Biomolecules 2020 Nov 28;10(12) doi: 10.3390/biom10121611. PMID: 33260588Free PMC Article
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H, King MS, Smith AC, Kunji ERS
Biochim Biophys Acta Bioenerg 2018 Jan;1859(1):1-7. Epub 2017 Oct 12 doi: 10.1016/j.bbabio.2017.10.002. PMID: 29031613
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article
START domain proteins and the intracellular trafficking of cholesterol in steroidogenic cells.
Strauss JF 3rd, Kishida T, Christenson LK, Fujimoto T, Hiroi H
Mol Cell Endocrinol 2003 Apr 28;202(1-2):59-65. doi: 10.1016/s0303-7207(03)00063-7. PMID: 12770731

Clinical prediction guides

Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import.
Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC, Birsoy K, Gamazon ER
Nat Genet 2024 Aug;56(8):1614-1623. Epub 2024 Jul 8 doi: 10.1038/s41588-024-01827-2. PMID: 38977856
BDNF-loaded PDADMAC-heparin multilayers: a novel approach for neuroblastoma cell study.
Dąbkowska M, Stukan I, Kowalski B, Donerowicz W, Wasilewska M, Szatanik A, Stańczyk-Dunaj M, Michna A
Sci Rep 2023 Oct 20;13(1):17939. doi: 10.1038/s41598-023-45045-y. PMID: 37864014Free PMC Article
Mitochondrial protein import clogging as a mechanism of disease.
Coyne LP, Wang X, Song J, de Jong E, Schneider K, Massa PT, Middleton FA, Becker T, Chen XJ
Elife 2023 May 2;12 doi: 10.7554/eLife.84330. PMID: 37129366Free PMC Article
Sequence Features of Mitochondrial Transporter Protein Families.
Gyimesi G, Hediger MA
Biomolecules 2020 Nov 28;10(12) doi: 10.3390/biom10121611. PMID: 33260588Free PMC Article
Thioredoxin-interacting protein and myocardial mitochondrial function in ischemia-reperfusion injury.
Yoshioka J, Lee RT
Trends Cardiovasc Med 2014 Feb;24(2):75-80. Epub 2013 Jul 26 doi: 10.1016/j.tcm.2013.06.007. PMID: 23891554Free PMC Article

Recent systematic reviews

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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