ArticleNeurology. Genetics2021
Novel Mutation m.10372A>G in
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4citing papers in PubMed
0.5field-weighted citation impact, top 44% of its field
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4 citing papers in PubMed, 6 citations in OpenAlex.
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Authors and funding
13 authors at 1 institution in 1 country.
Helene BruhnDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Kristin SamuelssonDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Florian A SchoberDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-4604-6170
Martin EngvallDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Nicole LeskoDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Rolf WibomDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Inger NennesmoDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Javier Calvo-GarridoDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Rayomand PressDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Henrik StranneheimDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Christoph FreyerDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Anna WedellDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Anna WredenbergDepartment of Medical Biochemistry and Biophysics (H.B., R.W., C.F., A. Wredenberg), Karolinska Institutet; Centre for Inherited Metabolic Diseases (H.B., R.W., C.F., M.E., N.L., H.S., A. Wedell, A. Wredenberg), Karolinska University Hospital; Department of Clinical Neuroscience (K.S., R.P.), Karolinska Institutet; Department of Neurology (K.S., R.P.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (F.A.S., M.E., N.L., J.C.-G., H.S., A. Wedell), Karolinska Institutet; Department of Pathology (I.N.), Karolinska University Hospital; and Science for Life Laboratory (H.S.), Karolinska Institutet, Stockholm, Sweden.
Karolinska University Hospital · SE
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the pathogenicity of a novel
methodsClinical assessments and morphologic and biochemical investigations of skeletal muscle and cultured myoblasts from the patient were performed. Whole-genome sequencing (WGS) of DNA from skeletal muscle and Sanger sequencing of mitochondrial DNA (mtDNA) from both skeletal muscle and cultured myoblasts were performed. Heteroplasmic levels of mutated mtDNA in different tissues were quantified by last-cycle hot PCR.
resultsMuscle showed ragged red fibers, paracrystalline inclusions, a significant reduction in complex I (CI) respiratory chain (RC) activity, and decreased adenosine triphosphate (ATP) production for all substrates used by CI. Sanger sequencing of DNA from skeletal muscle detected a unique previously unreported heteroplasmic mutation in mtDNA encoded
conclusionsWe report a case with adult-onset sensorimotor axonal polyneuropathy caused by a novel mtDNA mutation in
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