Pearson and Kearns-Sayre syndromes: Two multisystem mitochondrial diseases caused by mitochondrial DNA deletions [Síndromes de Pearson y de Kearns-Sayre: Dos enfermedades mitocondriales multisistémicas, debidas a deleciones en el ADN mitocondrial]
Martin Hernandez E.,Hospital Universitario 12 Of Octobre |
Garcia Silva M.T.,Hospital Universitario 12 Of Octobre |
Quijada Fraile P.,Hospital Universitario 12 Of Octobre |
Martinez De Aragon A.,Hospital Universitario 12 Of Octubre |
And 2 more authors.
Acta Pediatrica Espanola | Year: 2010
Kearns-Sayre (KSS) and Pearson syndromes are both multisystem mitochondrial diseases whose underlying genetic defect is a single large-scale mitochondrial DNA (mtDNA) deletion. Objectives: To describe the clinical spectrum of KSS and PS, with the object of spreading the knowledge of these disease to the pediatricians. Patients and methods: We reviewed the clinical notes of 6 patients diagnosed with KSS and 3 patients initially diagnosed with PS. Results: The age at the onset was lower in PS patients. First appearing symptoms were hematological (anemia), followed by renal (Fanconi) and digestive involvement (pancreatic insufficiency). Ophthalmological, endocrinological, cardiological and neurological symptoms were manifested at later stages. Four patients required pacemaker implantation. Six showed cerebral and/or brain stem involvement in MRI. CSF analysis showed increased levels of both lactic acid and proteins whereas folate levels were diminished. Half of the KSS patients showed ragged-red fibers and COX negative fibers in their skeletal muscle. A large-scale mtDNA deletion was found in eight patients. Conclusions: 1. The most remarkable differences between PS and KSS were the age at presentation and the initial clinical symptoms; symptoms during evolution, and biochemical, neuroradiological and genetic findings were similar in both disorders, 2. Mitochondrial diseases should be included in the differential diagnosis of the Fanconi syndrome, growth hormone deficiency and cardiac conduction disorders. A single large-scale mtDNA is essential to confirm the diagnosis.
Santos-Lozano A.,University of León |
Santos-Lozano A.,Hospital Universitario 12 Of Octobre |
Sanchis-Gomar F.,Hospital Universitario 12 Of Octobre |
Pareja-Galeano H.,European University at Madrid |
And 7 more authors.
Rejuvenation Research | Year: 2015
The world population is continuously aging, and centenarians may be considered to be the most successfully aged individuals. Among people who reach extreme longevity (EL; i.e., > 95 years), supercentenarians (SCs; aged ≥ 110 years) represent a subgroup of great scientific interest. Unfortunately, data on the worldwide distribution of SCs remain scarce. Therefore, this study was designed to investigate this issue. Current available data indicate that Japan is the country with the highest number of currently alive SCs. Interestingly, Puerto Rico would show the highest prevalence of SCs among people who reach EL (approximately one SC per 10,000 inhabitants aged ≥ 95 years), although data on this country must be intrepreted with caution owing to potential methodological limitations, mainly related to its small population. Our findings highlight the need to investigate in greater detail the genetic and lifestyle background of SCs, with the ultimate goal of unraveling new potential mechanisms underlying human EL. © Mary Ann Liebert, Inc.