Oxidative phosphorylation in creatine transporter deficiency. (29th September 2020)
- Record Type:
- Journal Article
- Title:
- Oxidative phosphorylation in creatine transporter deficiency. (29th September 2020)
- Main Title:
- Oxidative phosphorylation in creatine transporter deficiency
- Authors:
- Li, Shizhe
Bianconi, Simona
van der Veen, Jan Willem
Dang Do, An
Stolinski, JoEllyn
Cecil, Kim M.
Hannah‐Shmouni, Fady
Porter, Forbes D.
Shen, Jun - Abstract:
- Abstract : X‐linked creatine transporter deficiency (CTD) is one of the three types of cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X‐linked gene SLC6A8. We report the first phosphorus ( 31 P) MRS study of patients with CTD, where both phosphocreatine and total creatine concentrations were found to be markedly reduced. Despite the diminished role of creatine and phosphocreatine in oxidative phosphorylation in CTD, we found no elevation of lactate or lowered pH, indicating that the brain energy supply still largely relied on oxidative metabolism. Our results suggest that mitochondrial function is a potential therapeutic target for CTD. Abstract : We report the first phosphorus ( 31 P) MRS study of patients with creatine transporter deficiency. Both phosphocreatine and total creatine concentrations were found to be markedly reduced in the patients. This was accompanied by normal pH values and no elevation of the glycolytic product lactate, indicating that the brain energy supply remains dominated by oxidative phosphorylation in creatine transporter deficiency.
- Is Part Of:
- NMR in biomedicine. Volume 34:Number 1(2021)
- Journal:
- NMR in biomedicine
- Issue:
- Volume 34:Number 1(2021)
- Issue Display:
- Volume 34, Issue 1 (2021)
- Year:
- 2021
- Volume:
- 34
- Issue:
- 1
- Issue Sort Value:
- 2021-0034-0001-0000
- Page Start:
- n/a
- Page End:
- n/a
- Publication Date:
- 2020-09-29
- Subjects:
- 1H MRS -- 31P MRS -- creatine -- creatine transporter deficiency
Nuclear magnetic resonance -- Periodicals
Magnetic Resonance Spectroscopy -- Periodicals
574 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
- DOI:
- 10.1002/nbm.4419 ↗
- Languages:
- English
- ISSNs:
- 0952-3480
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 6113.931000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 15056.xml