Casademont J, Barrientos A, Cardellach F, Rötig A, Grau J M, Montoya J, Beltrán B, Cervantes F, Rozman C, Estivill X
Departament de Medicina, Hospital Clínic i Provincial i Universitat deBarcelona, Spain.
Hum Mol Genet. 1994 Nov;3(11):1945-9. doi: 10.1093/hmg/3.11.1945.
Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity of complexes I, III and IV. Mitochondrial DNA studies disclosed the presence of multiple deletions both in skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. We conclude that such patients suffer from a familial form of mitochondrial disease clinically resembling Pearson's syndrome, with a probably autosomal dominant inheritance.
两兄弟临床表现为铁粒幼细胞性贫血、轻度胰腺功能不全和进行性肌无力。伴有持续性基础乳酸血症增加了线粒体疾病的怀疑。对两兄弟进行的肌肉活检证实存在大量破碎红纤维，呼吸链酶测定显示复合体I、III和IV活性降低。线粒体DNA研究揭示骨骼肌中存在多个缺失，白细胞中缺失程度较轻。他们母亲的白细胞和肌肉中也存在类似但不完全相同的缺失。缺失两侧为短的直接重复序列。我们得出结论，这些患者患有临床类似于皮尔逊综合征的家族性线粒体疾病，可能为常染色体显性遗传。
