Your browser doesn't support javascript.
loading
Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.
Dawod, Phepy G A; Jancic, Jasna; Marjanovic, Ana; Brankovic, Marija; Jankovic, Milena; Samardzic, Janko; Gamil Anwar Dawod, Ayman; Novakovic, Ivana; Abdel Motaleb, Fayda I; Radlovic, Vladimir; Kostic, Vladimir S; Nikolic, Dejan.
Afiliação
  • Dawod PGA; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Jancic J; Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.
  • Marjanovic A; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Brankovic M; Clinic of Neurology and Psychiatry of Children and Youth, 11000 Belgrade, Serbia.
  • Jankovic M; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Samardzic J; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Gamil Anwar Dawod A; Neurology Clinic, Clinical Center of Serbia, 11000 Belgrade, Serbia.
  • Novakovic I; Institute of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Abdel Motaleb FI; Internal Medicine, Hepatogastroenterology and Endoscopy Department, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.
  • Radlovic V; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
  • Kostic VS; Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Ain Shams University, Cairo 11591, Egypt.
  • Nikolic D; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Diagnostics (Basel) ; 11(11)2021 Oct 23.
Article em En | MEDLINE | ID: mdl-34829316
ABSTRACT
Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation varies considerably in age of onset, course, and severity up to death in early childhood. In this study, we performed molecular genetic analysis for mtDNA pathogenic mutation detection in Serbian children, preliminary diagnosed clinically, biochemically and by brain imaging for mitochondrial encephalomyopathies disorders. Sanger sequencing analysis in three Serbian probands revealed two known pathogenic mutations. Two probands had a heteroplasmic point mutation m.3243A>G in the MT-TL1 gene, which confirmed mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome (MELAS), while a single case clinically manifested for Leigh syndrome had an almost homoplasmic (close to 100%) m.8993T>G mutation in the MT-ATP6 gene. After full mtDNA MITOMASTER analysis and PhyloTree build 17, we report MELAS' association with haplogroups U and H (U2e and H15 subclades); likewise, the mtDNA-associated Leigh syndrome proband shows a preference for haplogroup H (H34 subclade). Based on clinical-genetic correlation, we suggest that haplogroup H may contribute to the mitochondrial encephalomyopathies' phenotypic variability of the patients in our study. We conclude that genetic studies for the distinctive mitochondrial encephalomyopathies should be well-considered for realizing clinical severity and possible outcomes.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Diagnostics (Basel) Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Diagnostics (Basel) Ano de publicação: 2021 Tipo de documento: Article