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UC San Francisco Previously Published Works UCSF UC San Francisco Previously Published Works Title Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis. Permalink https://escholarship.org/uc/item/4k83m27z Journal Acta neuropathologica communications, 2(1) ISSN 2051-5960 Authors Hiniker, Annie Wong, Lee-Jun Berven, Sigurd et al. Publication Date 2014-09-16 DOI 10.1186/s40478-014-0137-3 License https://creativecommons.org/licenses/by/4.0/ 4.0 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Hiniker et al. Acta Neuropathologica Communications 2014, 2:137 http://www.actaneurocomms.org/content/2/1/137 CASE REPORT Open Access Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis Annie Hiniker1, Lee-Jun Wong2, Sigurd Berven3, Cavatina K Truong2, Adekunle M Adesina4 and Marta Margeta1* Abstract Axial myopathy can be the underlying cause of rapidly progressive adult-onset scoliosis; however, the pathogenesis of this disorder remains poorly understood. Here we present a case of a 69-year old woman with a family history of scoliosis affecting both her mother and her son, who over 4 years developed rapidly progressive scoliosis. The patient had a history of stable scoliosis since adolescence that worsened significantly at age 65, leading to low back pain and radiculopathy. Paraspinal muscle biopsy showed morphologic evidence of a mitochondrial myopathy. Diagnostic deficiencies of electron transport chain enzymes were not detected using standard bioassays, but mitochondrial immunofluorescence demonstrated many muscle fibers totally or partially deficient for complexes I, III, IV-I, and IV-IV. Massively parallel sequencing of paraspinal muscle mtDNA detected multiple deletions as well as a 40.9% heteroplasmic novel m.12293G > A (MT-TL2) variant, which changes a G:C pairing to an A:C mispairing in the anticodon stem of tRNA LeuCUN. Interestingly, these mitochondrial abnormalities were not detected in the blood of either the patient or her son, suggesting that the patient’s rapidly progressive late onset scoliosis was due to the acquired paraspinal mitochondrial myopathy; the cause of non-progressive scoliosis in the other two family members currently remains unexplained. Notably, this case illustrates that isolated mitochondrial myopathy can underlie rapidly-progressive adult-onset scoliosis and should be considered in the differential diagnosis of the primary axial myopathy. Keywords: mtDNA, Mitochondrial myopathy, Camptocormia, Adult scoliosis Introduction While axial myopathies can be secondary to other neuro- While adult scoliosis is a common disorder of the spine muscular disorders, in some cases they appear to arise de that often follows adolescent deformity, rapid progression novo and are designated primary axial myopathies. While of scoliosis with decompensation of posture occurs only etiologically heterogeneous, this group of conditions is clin- rarely in the adult. Rapidly progressive adult-onset scoli- ically characterized by progressive paraspinal muscle weak- osis is a debilitating and frequently painful condition that ness, myogenic pattern on EMG, and normal to mildly is poorly understood and typically considered idiopathic. elevated creatinine kinase (CK) levels. Pathologically, af- One particularly well-known manifestation of adult-onset fected paraspinal muscles typically show chronic myopathic scoliosis is camptocormia or “bent-spine syndrome,” in changes reminiscent of muscular dystrophy (fiber size vari- which the patient’s spine is involuntarily flexed when ation, fatty infiltration, and fibrosis [5]). Interestingly, mito- standing or sitting [1]. Until recently, little was known chondrial changes (ragged red and cytochrome c oxidase about the heritable and acquired factors leading to camp- (COX)-negative fibers) have also been observed in primary tocormia, aside from an unclear but reproducible relation- axial myopathies [6,7], but are generally thought to repre- ship to Parkinson’s disease [2–4]. However, recent work sent non-specific age-related mitochondrial pathology. has demonstrated that camptocormia can be due to a lo- However, a recent illustrative report demonstrated that her- calized axial myopathy leading to spinal instability [5]. itable mitochondrial DNA (mtDNA) mutations can also cause an axial myopathy [8]: a familial late-onset axial my- opathy due to mutation in the mitochondrial tRNA Phe * Correspondence: [email protected] 1Department of Pathology, University of California San Francisco, San gene was demonstrated in two elderly sisters with a history Francisco, CA, USA of encephalopathy and ataxia. Full list of author information is available at the end of the article © 2014 Hiniker et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Hiniker et al. Acta Neuropathologica Communications 2014, 2:137 Page 2 of 9 http://www.actaneurocomms.org/content/2/1/137 Here, we report a case of rapidly progressive adult- using Leica imaging system with Cytovision software. For onset scoliosis due to late-onset axial myopathy associ- each complex, fibers with strong red (porin) staining but ated with multiple somatic mtDNA abnormalities but no green staining were considered totally deficient (i.e. without chronic myopathic features typically observed in homoplasmic for mutant mitochondria), fibers with a primary axial myopathies. This case demonstrates that patchy green and red staining were considered partially de- adult spinal deformity may be secondary to a previously ficient (i.e. heteroplasmic for mutant mitochondria), while undiagnosed neuromuscular pathology and that primary fibers lacking both red and green staining were considered axial myopathy can be due to an apparently isolated mitochondrially hypodense. mitochondrial myopathy. Comprehensive mtDNA analysis by massively parallel (“next generation”) sequencing was performed on the Materials and methods paraspinal muscle and blood according to previously pub- Biopsy of T8 paraspinal muscle was obtained intraopera- lished methods [12,13]. Briefly, the entire mitochondrial tively during stage one of the two-stage spinal fusion. The genome was amplified using long-range PCR. The PCR flash-frozen muscle tissue was evaluated using a standard products were sequenced to approximately 20,000 depth panel of muscle stains (hematoxylin and eosin [H&E]; of coverage using the Illumina Hiseq. 2000, with the Re- modified trichrome; ATPase, pH = 9.4; NADH reductase; vised Cambridge Reference Sequence (rCRS NC_012920) SDH; and COX). Light microscopy images were acquired used as reference. The quantitative measurements of refer- with a DP72 digital camera on a BX41 bright-field light ence base and observed base for a single variant were re- microscope using cellSens Entry 1.4 software (all by ported as mean percentage value, with coding region Olympus Corp.). For electron microscopy, ultrathin (80 nm) variants reported for heteroplasmy ≥1.5%. Sanger sequen- sections of the glutaraldehyde-fixed, Epon-embedded tissue cing was performed for sequence confirmation of het- were stained with 2% uranyl acetate. Sections were exam- eroplasmic findings in the coding region that exceeded ined in a Tecnai G212 transmission electron microscope at 20% heteroplasmy. Massively parallel sequencing of 80 kV, with images obtained with a Hammamatsu camera mtDNA followed by Sanger sequencing of the breakpoint model Orca HR. (deletion/junction) regions was used for mtDNA deletion Standard biochemical assays for enzyme activities of the analysis, as described previously [12,13]. mtDNA copy electron transport chain were performed in duplicate on number was determined according to published proce- fresh frozen tissue at 30°C, according to previously pub- dures [14]. Finally, nuclear genome regions that include 14 lished methods [9,10]. The activities of complex I (NADH: nuclear genes (C10ORF2, DGUOK, MPV17, OPA1, ferricyanide dehydrogenase), complex II (succinate de- OPA3, POLG, POLG2, RRM2B, SLC25A4, SUCLG1, hydrogenase), complex I + III (NADH: cytochrome C oxi- SUCLG2, TK2, and TYMP) known to be involved in the dase), complex II + III (succinate:cytochrome c reductase), maintenance of mtDNA integrity and the deoxynucleotide and complex IV (cytochrome c oxidase) were measured salvage pathway were also analyzed using massively paral- using different electron acceptors/donors. Complex I was lel sequencing. followed using the oxidation of NADH at 340 nm. Com- plex II activity was measured via the reduction of 2,6- Results dichloroindophenol (DCIP) at 600 nm. Citrate synthase Clinical presentation was used as a marker for overall mitochondrial content. At age 65, the female patient developed progressive scoli- Immunofluorescence staining with antibodies specific osis consisting of decompensated deformity with severe for subunits of five respiratory chain complexes was sagittal and coronal plane imbalance that worsened rapidly performed at the Molecular Neuropathology Laboratory, over the next four years; past medical history was signifi- Texas Children’s Hospital. All antibodies were
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