title: Abnormal apocrine secretory cell mitochondria in a Huntington disease patient.
abstract: Over two decades, a 42-year old woman experienced the gradual onset of choreic involuntary movements, dystonia, and tics. Decreased caudate nucleus metabolism on 2-deoxyglucose PET scan and a heterozygous 49-CAG repeat expansion within the HTT gene established the diagnosis of HD, although no other family history was known. An axillary skin biopsy revealed a distinctive abnormality of mitochondria limited to the apocrine secretory cells on electron microscopy. All mitochondria were transformed into rounded structures with disrupted cristae and prominent myelin figures; many were enlarged up to 4 times the normal. Cytoplasm of apocrine secretory cells showed an abundance of lipid vacuoles, empty vesicles, and dense bodies. Biopsied skeletal muscle histology (light microscopy) was normal, as was a mitochondrial metabolism study. Biopsies from other HD patients have shown similar mitochondrial changes in cerebral neurons, muscle, fibroblasts, and lymphoblasts, adding to evidence for a systemic disturbance of mitochondria in HD.
authors.affiliation: Department of Neurology, Henry Ford Hospital, Wayne State University School of Medicine, Detroit, MI 48322, USA.
authors.forename: Christos
authors.initials: C
authors.lastname: Sidiropoulos
authors.forename: Peter
authors.initials: P
authors.lastname: LeWitt
authors.forename: Ken
authors.initials: K
authors.lastname: Hashimoto
mesh_terms: D017668:Age of Onset; D001050:Apocrine Glands / Q000473:pathology*; D001706:Biopsy; D003593:Cytoplasm / Q000648:ultrastructure; D018450:Disease Progression; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008854:Microscopy, Electron; D008928:Mitochondria / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics; D009928:Organ Specificity; D012867:Skin / Q000473:pathology; D020323:Tics / Q000209:etiology; D018911:Trinucleotide Repeats; D014617:Vacuoles / Q000648:ultrastructure; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins