Dataset Information

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.

ABSTRACT:

Aim

We aimed to identify the optimal method to estimate total energy expenditure (TEE) in mitochondrial disease (MD) patients.

Methods

Resting energy expenditure (REE) was measured in MD patients carrying the m3243A>G mutation using indirect calorimetry (IC) and compared with results of 21 predictive equations (PEs) for REE and with REE-IC measurements in healthy controls. Physical activity level (PAL) was measured using accelerometery (SenseWear) and compared with a fixed average PAL (1.4) as well as patients' self-estimated activity levels. TEE was calculated as REE-IC × PAL SenseWear and compared with usual care and energy recommendations for healthy adults.

Results

Thirty-eight MD patients (age: 48 ± 13 years; body mass index 24 ± 4 kg/m² ; male 20%) and 25 matched controls were included. The accuracy of most PEs was between 63% and 76%. The difference in REE-IC in healthy controls (1532 ± 182 kcal) and MD patients (1430 ± 221) was borderline not significant (P = .052). Patients' estimations PAL were 18%-34% accurate at the individual level. The fixed activity factor was 53% accurate. Patients overestimated their PAL. Usual care predicted TEE accurately in only 32% of patients.

Conclusion

TEE is lower in these MD patients than the recommendations for healthy adults because of their lower physical activity. In MD patients, 6 PEs for REE provide a reliable alternative for IC, with an accuracy of 71%-76%. As PAL is highly variable and not reliably estimated by patients, measurement of PAL using accelerometery is recommended in this population.

SUBMITTER: Zweers HEE

PROVIDER: S-EPMC7891583 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.

Zweers Heidi E E HEE Janssen Mirian C H MCH Wanten Geert J A GJA

JPEN. Journal of parenteral and enteral nutrition 20200801 1

<h4>Aim</h4>We aimed to identify the optimal method to estimate total energy expenditure (TEE) in mitochondrial disease (MD) patients.<h4>Methods</h4>Resting energy expenditure (REE) was measured in MD patients carrying the m3243A>G mutation using indirect calorimetry (IC) and compared with results of 21 predictive equations (PEs) for REE and with REE-IC measurements in healthy controls. Physical activity level (PAL) was measured using accelerometery (SenseWear) and compared with a fixed average ...[more]

PMID: 32696575

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Project description:Mitochondria generate signals of adaptation that regulate nuclear genes expression via retrograde signaling. But this phenomenon is complexified when qualitatively different mitochondria and mitochondrial DNA (mtDNA) coexist within cells. Although this cellular state of heteroplasmy leads to divergent phenotypes clinically, its consequences on cellular function and the cellular transcriptome are unknown. To interrogate this phenomenon, we generated somatic cell cybrids harboring increasing levels of a common mtDNA mutation (tRNALeu(UUR) 3243A>G) and mapped the resulting cellular phenotypes and transcriptional profiles across the complete range of heteroplasmy. Small increases in mutant mtDNAs caused relatively modest defect in mitochondrial oxidative capacity, but resulted in sharp transitions in mitochondrial ultrastructure and in the nuclear and mitochondrial transcriptomes, with the critical functional threshold corresponding to the induction of epigenetic regulatory systems. Principal component analysis underscores how each heteroplasmy level occupies a different "transcriptional space", with low levels heteroplasmy (20-30%) producing a dose-response linear progression in one direction, and mutationload of 50, 60 and 90% producing changes in the opposite direction. Hence, subtle changes in mitochondrial energetics can act through the epigenome to generate the phenotypes of the common “complex” diseases. Cells were generated by transferring the wildtype (3243A) and mutant (3243G) mtDNAs from a heteroplasmic 3243A>G patient’s lymphoblastoid cell line into 143B(TK-) mtDNA-deficient (ρo) cells and selected for transmitochondrial cybrids. Subsequent mtDNA depletion, reamplification, and cloning (Wiseman and Attardi, 1978) resulted in a series of stable cybrids harboring approximately 0, 20, 30, 50, 60, 90, and 100% 3243G mutant mtDNAs. Total RNA extracted from each cell line was then extracted, depleted of rRNA, and measured in sequenced in triplicates.

Dataset Information

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.

Aim

Methods

Results

Conclusion

Publications

Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.

Similar Datasets

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