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1.
Int J Legal Med ; 2024 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-38630276

RESUMEN

The European Council of Legal Medicine (ECLM) is the body established in 1992 to represent practitioners forensic & legal medicine and is composed of delegates of the countries of the European Union (EU) and from other countries which form part of Europe to a current total of 34 member countries. The aims of this study were to determine the current status of undergraduate forensic & legal medicine teaching in the curriculum of medical studies in ECLM countries and to use the results of this study to determine whether it would be appropriate to develop new guidelines and standards for harmonising the content of undergraduate forensic medicine training across ECLM member countries. A detailed questionnaire was sent to all individuals or organisations listed on the ECLM contact database. Responses were received from 21 of 33 countries on the database. These responses showed considerable emphasis on undergraduate teaching of forensic medicine in all countries with the exception of Belgium and the United Kingdom. There was great general consistency in the subjects taught. The data from this survey provide a baseline which should assist in developing a strategy to harmonise forensic & legal medicine undergraduate training in member countries of the ECLM. The ECLM is now in a good position to establish a pan-European working group to coordinate a consensus document identifying an appropriate and modern core undergraduate forensic medicine curriculum that can be presented to the medical education authorities in each country, and which can be adapted for local requirements, based on available personnel, the forensic medicine structure in the country, and most importantly, the needs of the local population.

2.
Forensic Sci Med Pathol ; 20(1): 205-211, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37171674

RESUMEN

During the turn of the year, injuries caused by fireworks occur in Germany every year. According to the professional associations, the Unfallkrankenhaus Berlin, for example, treats an average of 50 injuries caused by fireworks on New Year's Eve. Patients come with burns, soft tissue injuries, or fractures; eyes and hands are particularly frequently affected. Again and again, there are also very serious or even fatal injuries. The background is usually the improper or illegal use of larger fireworks. Smaller fireworks such as sparklers, bangers, or smaller rockets are available in Germany in most supermarkets, and their use is permitted from the age of 12 or 18. However, the use of larger fireworks in Germany requires proof of an official permit to handle pyrotechnic objects, which is why they are often acquired abroad. The following report describes such a case. Shortly after the turn of the year 2022, a young man died as a result of an explosive effect on the facial skull after using an illegal firework shell. The case is discussed with regard to the autopsy findings, the possible cause of the accident, and the type of firework used.


Asunto(s)
Traumatismos por Explosión , Quemaduras , Fracturas Óseas , Traumatismos de los Tejidos Blandos , Masculino , Humanos , Quemaduras/etiología , Traumatismos de los Tejidos Blandos/complicaciones , Berlin
3.
Int J Mol Sci ; 24(4)2023 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-36834791

RESUMEN

Forensic DNA profiles are established by multiplex PCR amplification of a set of highly variable short tandem repeat (STR) loci followed by capillary electrophoresis (CE) as a means to assign alleles to PCR products of differential length. Recently, CE analysis of STR amplicons has been supplemented by high-throughput next generation sequencing (NGS) techniques that are able to detect isoalleles bearing sequence polymorphisms and allow for an improved analysis of degraded DNA. Several such assays have been commercialised and validated for forensic applications. However, these systems are cost-effective only when applied to high numbers of samples. We report here an alternative, cost-efficient shallow-sequence output NGS assay called maSTR assay that, in conjunction with a dedicated bioinformatics pipeline called SNiPSTR, can be implemented with standard NGS instrumentation. In a back-to-back comparison with a CE-based, commercial forensic STR kit, we find that for samples with low DNA content, with mixed DNA from different individuals, or containing PCR inhibitors, the maSTR assay performs equally well, and with degraded DNA is superior to CE-based analysis. Thus, the maSTR assay is a simple, robust and cost-efficient NGS-based STR typing method applicable for human identification in forensic and biomedical contexts.


Asunto(s)
Dermatoglifia del ADN , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Dermatoglifia del ADN/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Análisis Costo-Beneficio , Repeticiones de Microsatélite , ADN/genética , Reacción en Cadena de la Polimerasa Multiplex , Análisis de Secuencia de ADN
4.
Int J Legal Med ; 136(1): 203-208, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34668070

RESUMEN

A 46-year-old man was admitted to the hospital by ambulance due to syncope. A standard blood screening showed a normal Hb value. The man had known hemorrhoids and a single fresh rectal bleeding earlier at home. On the following morning, the patient suddenly required resuscitation within a few minutes and subsequently died. Autopsy revealed a fatal hemorrhage with blood loss in the stomach and small and large intestines and a mucosal defect of the duodenum. After autopsy, the question arose whether the cause of death might have been a rare Dieulafoy's lesion-aim of this case report was to clarify the diagnosis.


Asunto(s)
Úlcera Duodenal , Úlcera Duodenal/complicaciones , Duodeno/patología , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/patología , Humanos , Persona de Mediana Edad , Recto/patología
5.
Int J Legal Med ; 135(3): 903-908, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33447890

RESUMEN

In sauna-associated deaths, the vitality of heat exposure is of great importance. Two case reports address this. First, we present the case of a 77-year-old man who was found dead in the sauna of his family home. When found, the sauna door was closed, and the sauna indicated a temperature of 78 °C. The body had already begun to decay and was partially mummified when it was found. In the other case, a 73-year-old woman was found dead in the sauna by her husband. In this case, the sauna door was also closed. The sauna was still in operation at a temperature of approximately 70 °C. Epidermal detachments were found. In both autopsies and their follow-up examinations, there were no indications of a cause of death competing with heat shock. The expression of heat shock proteins in kidneys and lungs and the expression of aquaporin 3 in skin were investigated to detect pre-mortal temperature influences.


Asunto(s)
Acuaporina 3/análisis , Proteínas de Choque Térmico/análisis , Respuesta al Choque Térmico , Riñón/patología , Pulmón/patología , Piel/patología , Baño de Vapor , Anciano , Resultado Fatal , Femenino , Humanos , Masculino
6.
Forensic Sci Med Pathol ; 17(1): 36-46, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33315179

RESUMEN

Backspatter is biological material that is ejected from the entry wound against the line of fire. This phenomenon was also observed in wound ballistic simulations using so called "reference cubes" (12 cm edge length, 10% gelatin, 4 °C, paint pad beneath the cover). High-speed video records from 102 experimental shots to these target models using full metal jacketed bullets in the calibers .32 auto, .38 special, 9 mm Luger and .357 Magnum were analyzed for chronology, morphological appearance and velocity of fluid ejection. Generally, a short tail splashing of surface material occurred when the bullet was penetrating the target. In 51 shots from distance (≥ 5 cm), regardless of caliber and shot range, a linear jet of fluid started in connection with the first collapse of the temporary cavity. The initial velocity of the jet was measured between 6 and 45 m/s. The jet was streaming on for about 60 to 100 ms with a stochastic deviation of ± 13° to the horizontal. Close range and contact shots showed earlier and faster (up to 330 m/s) backspatter depending on the cartridge and the gap between muzzle and target. Gaseous aerosol-like spray and cone-like spatter indicated an increasing influence of muzzle gases with decreasing shot range. Even under standardized experimental conditions, variations of backspatter were observed in near/contact shots.


Asunto(s)
Balística Forense/métodos , Heridas por Arma de Fuego , Armas de Fuego , Gelatina , Humanos , Modelos Biológicos
7.
Forensic Sci Med Pathol ; 17(3): 501-505, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33538955

RESUMEN

In 2015, 911,841 left heart catheterizations and 365,038 percutaneous coronary interventions were carried out in Germany. Complication rates for elective cardiac catheterization are low; however, the risk of complications increases with patient age and comorbidity. We present the case of a 49-year-old woman with long-term anorexia nervosa who underwent a diagnostic left heart catheterization on suspicion of takotsubo cardiomyopathy (TTC). She was found with extended hemorrhage from the puncture site approximately 3.5 h after the procedure. Autopsy identified fatal bleeding as the cause of death. Clinical examinations, autopsy findings, and forensic follow-up examinations revealed no pre-existing conditions that could have contributed to fatal bleeding. Anorexia nervosa is an eating disorder with a high mortality rate. Suicide is one of the most frequent causes of death among anorexia nervosa patients. Considering the patient's history of psychiatric problems and previous suicidal utterances, we assume that she manipulated her pressure bandage with suicidal intent.


Asunto(s)
Anorexia Nerviosa , Trastornos de Alimentación y de la Ingestión de Alimentos , Anorexia Nerviosa/epidemiología , Comorbilidad , Angiografía Coronaria , Femenino , Hemorragia/etiología , Humanos , Persona de Mediana Edad
8.
Forensic Sci Med Pathol ; 17(2): 354-361, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33481170

RESUMEN

A 41-year-old man was found by his wife in an atypical hanging situation in their apartment. As there was a known previous psychiatric illness and a history of suicide attempts, the investigative authorities assumed this case was a suicide. However, the autopsy revealed numerous findings that are unusual for a suicidal atypical hanging, including numerous cuts on the face, the arms and the penis. According to his wife, the deceased suffered from Asperger's syndrome with auto-aggressive behavior. He had allegedly injured himself with household scissors in the days before his death and had hit himself numerous times in the face the night before his death. His wife also revealed that she would injure him with scissors at his request. Even though the observed injury pattern in this case contradicted a self-infliction, the information given by the wife about the chronology of the occurrence of injuries could be reconciled with the findings of the immunohistochemical estimation of wound age. The circumstances that led to the hanging remained unresolved.


Asunto(s)
Suicidio , Adulto , Autopsia , Humanos , Masculino
9.
Forensic Sci Med Pathol ; 17(3): 486-492, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34191249

RESUMEN

Skin signs in acute pancreatitis are well-known and frequently discussed manifestations accompanied by unfavorable prognoses although they may rarely appear in clinical and forensic medicine. In 2018, the district attorney's office ordered a forensic autopsy for a 74-year-old man with terminal stage pancreatic cancer. The autopsy was ordered based on accusations of the deceased's widow regarding alleged medical malpractice and poor hospital care. The widow filed a grievance about multiple unsuccessful attempts to draw blood from her husband in addition to a diaper dermatitis at the right groin. An autopsy and additional histological examinations were performed. After considering all findings, the diaper dermatitis was eventually assumed to be a Fox sign caused by acute pancreatitis, and the allegations of medical malpractice were refuted. This case led us to identify another case with suspected cutaneous manifestations in pancreatic disease. We performed immunohistochemical staining on those two cases and six control cases to examine whether there was detectable presence of pancreatic lipase and trypsin in the skin discolorations and whether it could be used as a feasible method to verify skin signs associated with pancreatitis. Based on our findings, a minor disseminated lipase and trypsin staining should be considered regular and is therefore not conclusive of a skin sign associated with pancreatitis. Moreover, trypsin does not seem to be as suitable as lipase for this suggested immunohistochemical method. Nevertheless, this method might be a useful addition for determining the origin of skin discoloration and verifying skin signs associated with pancreatitis.


Asunto(s)
Neoplasias Pancreáticas , Pancreatitis , Enfermedad Aguda , Anciano , Contusiones , Femenino , Humanos , Masculino , Páncreas
10.
Forensic Sci Med Pathol ; 17(3): 431-436, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34213703

RESUMEN

Factitious disorders (FDs) are well known to a majority of physicians; however, the corresponding ICD-10 diagnosis F68.1 remains severely under assigned and often misdiagnosed. Based on a previously conducted nationwide survey in Germany, we extended the analyzed variables to further understand FD characteristics.The assignments regarding the following variables in the German diagnosis-related group statistics were analyzed: residence of the patient and location of the diagnosing institution, primary referral to the diagnosing institution, reason for admission and discharge, specialty department, total length of stay, length of stay in the longest treating department, surgery performed, case mix revenue, regional type of the treating institution, and patients' region of origin.A very distinct difference was observed in the assignment rates based on the homeland of the diagnosed patient and diagnosing institution. The assignment rate showed no significant difference across German regions. Based on our findings, a patient with FD in Germany might exhibit the following "typical" traits: A woman in her late thirties from a rural area is referred by a physician or another hospital wherein she was previously treated for more than a day to an institution for fully inpatient hospital treatment wherein she completes her treatment regularly. Dermatology, neurology, emergency, and internal medicine departments tend to be confronted with patients with FDs more often than other departments; however, surgery is performed in every fifth case. Patients are primarily treated in only one department for ~ 25 days. The case mix revenue will most probably not exceed €5000.


Asunto(s)
Trastornos Fingidos , Trastornos Fingidos/diagnóstico , Femenino , Alemania , Hospitalización , Humanos , Encuestas y Cuestionarios
11.
Int J Legal Med ; 134(2): 603-612, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31900626

RESUMEN

PURPOSE: The detection and quantification of metabolites relevant for the diagnosis of fatal metabolic disorders by proton magnetic resonance spectroscopy (1H-MRS) was recently demonstrated. This prospective study aimed to compare the concentrations of beta-hydroxybutyrate (BHB), glucose (GLC), and lactate (LAC) derived from both biochemical analyses and 1H-MRS for the diagnosis of fatal metabolic disorders. METHODS: In total, 20 cases with suspected fatal metabolic disorders were included in the study. For the agreement based on thresholds, the concentrations of BHB and GLC in the vitreous humor (VH) from the right vitreous and in cerebrospinal fluid (CSF) from the right lateral ventricle were derived from 1H-MRS and biochemical analyses. The predefined thresholds for pathological elevations were 2.5 mmol/l for BHB and 10 mmol/l for GLC based on the literature. In addition, concentrations of the same metabolites in white matter (WM) tissue from the corona radiata of the right hemisphere were analyzed experimentally using both methods. To enable the biochemical analysis, a dialysate of WM tissue was produced. For all three regions, the LAC concentration was determined by both methods. RESULTS: The conclusive agreement based on thresholds was almost perfect between both methods with only one disagreement in a total of 70 comparisons due to the interference of a ferromagnetic dental brace. The differences in the concentrations between both methods showed high standard deviations. Confidence intervals of the bias not including 0 were found in CSF-GLC (- 3.1 mmol/l), WM-GLC (1.1 mmol/l), and WM-LAC (- 6.5 mmol/l). CONCLUSION: Despite a considerable total error attributable to both methods, MRS derives the same forensic conclusions as conventional biochemical analyses. An adaptation of the protocol to reduce the detected errors and more data are needed for the long-term validation of MRS for the diagnosis of fatal metabolic disorders. The production of WM dialysates cannot be recommended due to high glycolytic loss.


Asunto(s)
Ácido 3-Hidroxibutírico/análisis , Glucosa/análisis , Ácido Láctico/análisis , Enfermedades Metabólicas/diagnóstico , Enfermedades Metabólicas/mortalidad , Espectroscopía de Protones por Resonancia Magnética , Ácido 3-Hidroxibutírico/líquido cefalorraquídeo , Autopsia , Biomarcadores/análisis , Glucosa/líquido cefalorraquídeo , Humanos , Ácido Láctico/líquido cefalorraquídeo , Ventrículos Laterales/química , Estudios Prospectivos , Cuerpo Vítreo/química , Sustancia Blanca/química
12.
Forensic Sci Med Pathol ; 16(4): 728-731, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32797368

RESUMEN

A 49-year-old woman was found dead in her apartment after a fire began in her building. During the forensic autopsy, 3rd to 4th degree burns were found on the woman's body, but there were no indications that she was alive when the fire started. Interestingly, hemorrhagic gastric mucosa erosions, as well as bloody contents in the esophagus, stomach, and intestines, were observed. However, the source of the bleeding could not be found. The cause of death was therefore determined to be hypothermia with postmortem fire exposure. The cause of the hypothermia could possibly have been high internal blood loss. The organs showed early signs of putrefaction. It was theorized that the woman had not died immediately before the fire began, but rather a few days before. Examination of heat shock proteins (HSPs) to evaluate premortem thermal influences did not reveal HSP 27, 60, or 70 expression in renal tissue, possibly because of the putrefaction. However, Sudan staining of this tissue revealed a fatty degeneration of renal tubular cells. Opposing temperature influences, as in this case, are rather rare and require thorough investigations.


Asunto(s)
Incendios , Hipotermia/diagnóstico , Quemaduras/patología , Esófago/patología , Femenino , Mucosa Gástrica/patología , Hemorragia/patología , Humanos , Intestinos/patología , Túbulos Renales/patología , Persona de Mediana Edad , Estómago/patología
13.
Forensic Sci Med Pathol ; 16(4): 705-709, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32394205

RESUMEN

Gyroplanes are mainly used for sports aviation. Experience is required when flying these special aircraft because in 40% of gyroplane crashes, the passengers do not survive. Herein, a fatal gyroplane crash of a tandem-seat gyroplane with two occupants is reported. The occupants, both 49-year-old males, fell from a height of approximately 20 m to 30 m. In both cases, the cause of death was polytrauma with typical findings of deceleration trauma. The pilot, who probably lost his helmet in the crash, had a ring fracture at the base of his skull. As there is not much literature on autopsy findings in the case of light aircraft crashes, these autopsy findings are presented and discussed.


Asunto(s)
Accidentes de Aviación , Aeronaves , Traumatismo Múltiple/patología , Fracturas Múltiples/patología , Humanos , Masculino , Persona de Mediana Edad
14.
Forensic Sci Med Pathol ; 16(2): 335-339, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32172483

RESUMEN

Transcatheter aortic valve implantation (TAVI) represents a catheter-based and minimally invasive replacement of the aortic valve. TAVI is considered to be a relatively safe procedure and has evolved to a standard procedure in inoperable and high-risk patients with aortic stenosis. We present a case of an octogenarian who died in hospital less than a day after an initially satisfactory TAVI. Cardiologists suspected a combination of cardiogenic and hemorrhagic shock as the cause of death. Autopsy showed rupture of an extensive aortic dissection, which had developed within 24 h after the procedure. The cause of death was eventually defined as internal bleeding due to a rapid two-stage vascular process. The manner of death was considered accidental because an iatrogenic vessel injury beyond the aortic arch was causative for the death. This unusual case highlights the potential for rare, but fatal, complications within the scope of cardiac catheterizations, such as TAVI. Additionally, our findings suggest that these complications need to be recognized in the diagnostic process and management of post-interventional complications.


Asunto(s)
Aneurisma de la Aorta/patología , Disección Aórtica/patología , Enfermedad Iatrogénica , Reemplazo de la Válvula Aórtica Transcatéter/efectos adversos , Adventicia/patología , Anciano de 80 o más Años , Estenosis de la Válvula Aórtica/cirugía , Humanos , Masculino , Túnica Media
15.
Forensic Sci Med Pathol ; 16(3): 531-534, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32146575

RESUMEN

Ligature strangulation causes death due to neck compression without suspension. However, suicidal ligature strangulation is rare. The suicide of a 32-year-old man is presented. After a dispute, the man was found outdoors with a lashing belt around his neck which had been pulled tight with a ratchet. Conjunctival petechiae were found, but hemorrhages in the soft tissues were not observed. The hyoid bone and larynx did not show fractures or hemorrhage. Other injuries as well as signs of defence were not observed. The differentiation between homicidal and suicidal ligature strangulation can be difficult and requires careful investigation and collaboration by police and forensic pathologists.


Asunto(s)
Asfixia/patología , Traumatismos del Cuello/patología , Suicidio Completo , Adulto , Conjuntiva/patología , Humanos , Masculino , Enfisema Pulmonar/patología , Púrpura/patología
16.
Forensic Sci Med Pathol ; 16(3): 450-456, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32524413

RESUMEN

Factitious disorders (FD) like Munchausen syndrome are well known to most physicians, yet the corresponding ICD-10 diagnosis F68.1 remains severely under-assigned and often misdiagnosed. To approach this problem, we conducted a nationwide inquiry for Germany and Norway as well as a comparison between these two countries regarding the incidence of diagnosis of FD. The assignment rates of F68.1 in somatic hospitals from 2008 to 2016 were analyzed based on the Diagnosis Related Groups statistic from the German Federal Statistical Office and the data provided from the Norwegian Patient Registry. The Norwegian data also included information on individual patients whereas the German data only contained the total number of F68.1 assignment due to strict medical confidentiality laws. The incidence of the diagnosis of FD in Germany and Norway showed similar assignment rates with 3.71 and 3.18 per 100,000, respectively. The mean age was 39.4 years for German patients and 35.6 years for Norwegian patients. The gender distribution was almost equal for the individual patients' rate (49% female and 51% male). Furthermore, our results indicate that female patients with FD tend to demand healthcare services more frequently than male patients. Smaller studies focusing on the diagnosis of FD have significantly higher assignment rates compared to nationwide inquiries. Our results illustrate substantial differences between estimations of the incidence of FD and the need for further studies. Besides the many obstacles associated with diagnosis of FD, strict medical confidentiality laws prevent reliable and scientific investigations of this matter.


Asunto(s)
Trastornos Fingidos/epidemiología , Adulto , Femenino , Alemania/epidemiología , Humanos , Incidencia , Masculino , Noruega/epidemiología , Distribución por Sexo
17.
Forensic Sci Med Pathol ; 16(2): 366-369, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-31713779

RESUMEN

In forensic practice, autopsies are regularly carried out in cases of suspected medical malpractice to determine whether a treatment resulted in death. Intraoperative deaths, as well as deaths shortly after an operation, can be particularly suspicious as iatrogenic. We report a case of a 75-year-old woman with a complaint of intermittent angina pectoris who underwent cardiac catheterization. Intra-interventionally, coronary artery dissection occurred and was stabilized by the placement of two stents. After this procedure, the patient suffered from chest pain. At 5.5 h after the procedure ended, the woman suddenly and unexpectedly died. At forensic autopsy, a hemopericardium with cardiac tamponade was found to have been caused by the rupture of a myocardial infarction that was several days old and had remained clinically unrecognized. This case report illustrates the importance of forensic autopsies in terms of external quality assurance in medicine.


Asunto(s)
Taponamiento Cardíaco/patología , Vasos Coronarios/lesiones , Diagnóstico Erróneo , Infarto del Miocardio/patología , Derrame Pericárdico/patología , Stents/efectos adversos , Anciano , Cateterismo Cardíaco/efectos adversos , Femenino , Humanos , Enfermedad Iatrogénica , Rotura Espontánea/patología
20.
PLoS Genet ; 12(3): e1005939, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26978189

RESUMEN

The mitochondrial (mt) genome is present in many copies in human cells, and intra-individual variation in mtDNA sequences is known as heteroplasmy. Recent studies found that heteroplasmies are highly tissue-specific, site-specific, and allele-specific, however the functional implications have not been explored. This study investigates variation in mtDNA copy numbers (mtCN) in 12 different tissues obtained at autopsy from 152 individuals (ranging in age from 3 days to 96 years). Three different methods to estimate mtCN were compared: shotgun sequencing (in 4 tissues), capture-enriched sequencing (in 12 tissues) and droplet digital PCR (ddPCR, in 2 tissues). The highest precision in mtCN estimation was achieved using shotgun sequencing data. However, capture-enrichment data provide reliable estimates of relative (albeit not absolute) mtCNs. Comparisons of mtCN from different tissues of the same individual revealed that mtCNs in different tissues are, with few exceptions, uncorrelated. Hence, each tissue of an individual seems to regulate mtCN in a tissue-related rather than an individual-dependent manner. Skeletal muscle (SM) samples showed an age-related decrease in mtCN that was especially pronounced in males, while there was an age-related increase in mtCN for liver (LIV) samples. MtCN in SM samples was significantly negatively correlated with both the total number of heteroplasmic sites and with minor allele frequency (MAF) at two heteroplasmic sites, 408 and 16327. Heteroplasmies at both sites are highly specific for SM, accumulate with aging and are part of functional elements that regulate mtDNA replication. These data support the hypothesis that selection acting on these heteroplasmic sites is reducing mtCN in SM of older individuals.


Asunto(s)
Factores de Edad , Variaciones en el Número de Copia de ADN/genética , ADN Mitocondrial/genética , Genoma Mitocondrial/genética , Anciano , Replicación del ADN/genética , Frecuencia de los Genes/genética , Humanos , Masculino , Mitocondrias Hepáticas/genética , Mitocondrias Hepáticas/metabolismo , Músculo Esquelético/metabolismo , Especificidad de Órganos
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