Abstract

Objective: There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. Methods: To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids. Results: In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity. Conclusions: These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

Original languageEnglish (US)
Article numbere160
JournalNeurology: Genetics
Volume3
Issue number3
DOIs
StatePublished - Jul 1 2017

Fingerprint

MELAS Syndrome
Mitochondrial Diseases
Lipids
Magnetic Resonance Spectroscopy
Mitochondrial DNA
Fats
Biopsy
Muscles
Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

Cite this

Intramyocellular lipid excess in the mitochondrial disorder MELAS. / Golla, Sailaja; Ren, Jimin; Malloy, Craig R.; Pascual, Juan M.

In: Neurology: Genetics, Vol. 3, No. 3, e160, 01.07.2017.

Research output: Contribution to journalArticle

@article{1bb8a2ce7fbc4a179cb24db59d27dec3,
title = "Intramyocellular lipid excess in the mitochondrial disorder MELAS",
abstract = "Objective: There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. Methods: To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids. Results: In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity. Conclusions: These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.",
author = "Sailaja Golla and Jimin Ren and Malloy, {Craig R.} and Pascual, {Juan M.}",
year = "2017",
month = "7",
day = "1",
doi = "10.1212/NXG.0000000000000160",
language = "English (US)",
volume = "3",
journal = "Neurology: Genetics",
issn = "2376-7839",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Intramyocellular lipid excess in the mitochondrial disorder MELAS

AU - Golla, Sailaja

AU - Ren, Jimin

AU - Malloy, Craig R.

AU - Pascual, Juan M.

PY - 2017/7/1

Y1 - 2017/7/1

N2 - Objective: There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. Methods: To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids. Results: In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity. Conclusions: These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

AB - Objective: There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. Methods: To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids. Results: In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity. Conclusions: These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

UR - http://www.scopus.com/inward/record.url?scp=85046164028&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85046164028&partnerID=8YFLogxK

U2 - 10.1212/NXG.0000000000000160

DO - 10.1212/NXG.0000000000000160

M3 - Article

C2 - 28589178

AN - SCOPUS:85046164028

VL - 3

JO - Neurology: Genetics

JF - Neurology: Genetics

SN - 2376-7839

IS - 3

M1 - e160

ER -