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Altered lipid transport, metabolism and storage influence the bioenergetics, redox status and insulin signalling, contributing to cardiac and neurological diseases. Lipid storage disorders (<jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>s) are neurological disorders which entail intramuscular lipid accumulation and impaired mitochondrial bioenergetics in the skeletal muscle causing progressive myopathy with muscle weakness. However, the mitochondrial changes including molecular events associated with impaired lipid storage have not been completely understood in the human skeletal muscle. We carried out morphological and biochemical analysis of mitochondrial function in muscle biopsies of human subjects with <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>s (<jats:italic>n<\/jats:italic>\u00a0=\u00a07), compared to controls (<jats:italic>n<\/jats:italic>\u00a0=\u00a010). Routine histology, enzyme histochemistry and ultrastructural analysis indicated altered muscle cell morphology and mitochondrial structure. Protein profiling of the muscle mitochondria from <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> samples (<jats:italic>n<\/jats:italic>\u00a0=\u00a05) (vs. control, <jats:italic>n<\/jats:italic>\u00a0=\u00a05) by high\u2010throughput mass spectrometric analysis revealed that impaired metabolic processes could contribute to mitochondrial dysfunction and ensuing myopathy in <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>s. We propose that impaired fatty acid and respiratory metabolism along with increased membrane permeability, elevated lipolysis and altered cristae entail mitochondrial dysfunction in <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content>s. Some of these mechanisms were unique to <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> apart from others that were common to dystrophic and inflammatory muscle pathologies. Many differentially regulated mitochondrial proteins in <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> are linked with other human diseases, indicating that mitochondrial protection via targeted drugs could be a treatment modality in <jats:styled-content style=\"fixed-case\">LSD<\/jats:styled-content> and related metabolic diseases.<\/jats:p><\/jats:sec><jats:sec><jats:label\/><jats:p>\n<jats:boxed-text content-type=\"graphic\" position=\"anchor\"><jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" mimetype=\"image\/png\" position=\"anchor\" specific-use=\"enlarged-web-image\" xlink:href=\"graphic\/jnc14318-fig-0010-m.png\"><jats:alt-text>image<\/jats:alt-text><\/jats:graphic><\/jats:boxed-text>\n<\/jats:p><jats:p><jats:bold>Cover Image<\/jats:bold> for this Issue: doi: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" xlink:href=\"10.1111\/jnc.14177\">10.1111\/jnc.14177<\/jats:ext-link>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jnc.14318","type":"journal-article","created":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T07:18:44Z","timestamp":1518160724000},"page":"323-341","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Mitochondrial dysfunction in human skeletal muscle biopsies of lipid storage disorder"],"prefix":"10.1111","volume":"145","author":[{"given":"Bandopadhyay","family":"Debashree","sequence":"first","affiliation":[{"name":"Department of Neurochemistry National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Kumar","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics Bangalore Karnataka India"},{"name":"Manipal University Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thottethodi Subrahmanya","family":"Keshava Prasad","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics Bangalore Karnataka India"},{"name":"Center for Systems Biology and Molecular Medicine Yenepoya University Mangalore Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana","family":"Natarajan","sequence":"additional","affiliation":[{"name":"Department of Neurochemistry National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Christopher","sequence":"additional","affiliation":[{"name":"Department of Neurochemistry National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[{"name":"Department of Neurology National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parayil Sankaran","family":"Bindu","sequence":"additional","affiliation":[{"name":"Department of Neurology National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narayanappa","family":"Gayathri","sequence":"additional","affiliation":[{"name":"Department of Neuropathology National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0221-9228","authenticated-orcid":false,"given":"Muchukunte Mukunda","family":"Srinivas Bharath","sequence":"additional","affiliation":[{"name":"Department of Neurochemistry National Institute of Mental Health and Neurosciences (NIMHANS) Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-032303004-5.50137-X"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4809"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2014.00282"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/301653"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2017.04.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0083-6729(02)65061-7"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(91)90546-6"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1003"},{"key":"e_1_2_9_11_1","first-page":"353","article-title":"Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers","volume":"52","author":"Challa S.","year":"2004","journal-title":"Neurol. 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