[Diabetes and mitochondrial cytopathies: pathological studies].
Maternal diabetes associated with neural deafness is designated as MIDD (maternal inherited diabetes and deafness); it is linked to a A3243G tRNA leucine gene mutation. The disease course is progressive and involvement of other systems is frequent. In most cases, macular pattern dystrophy is present. Muscular lesions are characteristic of mitochondrial myopathies. Mitochondrial abnormalities have also been observed in pancreas, heart, kidney, smooth muscle of the digestive tract with variable heteroplasmy levels. MIDD may present as a single syndrome or is part of MELAS or Kearns-Sayre syndrome.
Mikol
J
J
Services d'Anatomie et Cytologie Pathologiques, de Médecine B et d'Ophtalmologie, Hôpital Lariboisière, Paris. jacqueline.mikol@lrb.ap-hop-paris.fr
Guillausseau
P J
PJ
Massin
P
P
D003638:Deafness / Q000235:genetics / Q000473:pathology; D003920:Diabetes Mellitus / Q000235:genetics / Q000473:pathology*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide; D012343:RNA, Transfer / Q000235:genetics; D014929:Wolfram Syndrome / Q000235:genetics / Q000473:pathology
D012343:RNA, Transfer