MELAS (mitochondrial encephalomyopathy with lactic acidosls and stroke-like episodes) is one of a group of heterogeneous yet clinically distinct syndromes ascribed to a defect in mitochondrial function. Here, the case of a patient diagnosed with the 1 Received November 21, 1994. Accepted October 19. 1995. 2 Correspondence to Dr. L Dworkin, Division of Renal Diseases, The Rhode Island Hospital, ...

A-kinase-anchoring protein 149 (AKAP149) is a membrane protein of the mitochondrial and endoplasmic reticulum/nuclear envelope network. AKAP149 controls the subcellular localization and temporal order of protein phosphorylation by tethering protein kinases and phosphatases to these compartments. AKAP149 also includes an RNA-binding K homology (KH) domain, the loss of function of which has been ...

Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the mtDNA helicase gene, c10orf2, with an increased frequency in the Finnish population due to a found...

We evaluated coenzyme Q₁₀ (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n=39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann-Whitney-U test: p=0.001). Our findings suggest t...

Iron Metabolism & Its Disorders Over-expression of mitochondrial ferritin affects the JAK2/STAT5 pathway in K562 cells and causes mitochondrial iron accumulation Paolo Santambrogio, Benedetta Gaia Erba, Alessandro Campanella, Anna Cozzi, Vincenza Causarano, Laura Cremonesi, Anna Gallì, Matteo Giovanni Della Porta, Rosangela Invernizzi, and Sonia Levi Myelodysplastic Syndromes Impact of the degr...

Recent reports describe hematopoietic abnormalities in mice with targeted instability of the mitochondrial genome. However, these abnormalities have not been fully described. We demonstrate that mutant animals develop an age-dependent, macrocytic anemia with abnormal erythroid maturation and megaloblastic changes, as well as profound defects in lymphopoiesis. Mice die of severe fatal anemia at ...

BACKGROUND Despite the considerable progress made in understanding the molecular bases of mitochondrial diseases, no effective treatments have been developed to date. Faithful animal models would be extremely helpful for designing such treatments. We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the Apopt...

Heteroplasmic mitochondrial DNA (mtDNA) mutations (mutations present only in a subset of cellular mtDNA copies) arise de novo during the normal ageing process or may be maternally inherited in pedigrees with mitochondrial disease syndromes. A pathogenic mtDNA mutation causes respiratory chain deficiency only if the fraction of mutated mtDNA exceeds a certain threshold level. These mutations oft...

premenstrual syndromes (pms) are a group of menstrually related, chronic and cyclical disorders characterized by emotional, behavioral, and physical symptoms in the second half (luteal phase) of the menstrual cycle. several line of evidence point to a significant role of the serotonergic system in the course of the luteal phase in women with pms/ premenstrual dysphoric disorder. it has been rep...

Disease Overview Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include myelodysplastic syndromes RS (MDS-RS) and MDS/myeloproliferative neoplasm thrombocytosis (MDS/MPN-RS-T). Diagnosis MDS-RS is a lower risk MDS, single or multilineage dysplasia (MDS-RS-SLD/MLD), <5% bone marrow (B...