A female individual with symptoms of the Maternally Inherited Diabetes and Deafness syndrome (MIDD) was diagnosed positive for the A3243G mutation in her mitochondrial DNA. Heteroplasmy levels were 18% in DNA from leucocytes and 55% in oral mucosa DNA. This finding corroborates the diagnosis of MIDD. Normally, this mutation is present in all the individuals within the maternal lineage of the pedigree. In this particular pedigree the mutation was undetectable in the mother of the proband and her three brothers. Paternity testing using polymorphic chromosomal DNA markers supported the assumed family relationship. We conclude that we are dealing in this proband with the de novo appearance of the A3243G mutation that has reached high heteroplasmy values in at least two tissues within one generation. This observation supports the hypothesis that during embryogenesis mitochondrial DNA goes through a genetic bottleneck with a limited number of segregating units.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1076/apab.110.3.186.8294 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Screening for Mitochondrial tRNA Variants in 200 Patients with Systemic Lupus Erythematosus.
Hum Hered
December 2024
Department of Respiratory and Critical Care Medicine, The Second Affiliated Hospital of Wannan Medical College, Wuhu, China.
Introduction: Systemic lupus erythematosus (SLE) is a common autoimmune disease with unknown etiology. Recently, a growing number of evidence suggested that mitochondrial dysfunctions played active roles in the pathogenesis of SLE, but its detailed mechanism remains largely undetermined. The aim of this study was to analyze the frequencies of mitochondrial tRNA (mt-tRNA) variants in Chinese individuals with SLE.
View Article and Find Full Text PDFMitochondrial diabetes presenting with spontaneous abortion and ketoacidosis onset: A case report and literature review.
Medicine (Baltimore)
October 2024
Department of Endocrinology, Xuzhou Central Hospital, Xuzhou, China.
Article Synopsis
- - Mitochondrial diabetes mellitus (MDM) is a rare type of diabetes caused by mitochondrial dysfunction, leading to varied symptoms that can be easily misdiagnosed; accurate diagnosis is vital for effective treatment and case reporting.
- - A young woman with sensorineural hearing loss was diagnosed with MDM after genetic testing revealed a specific mitochondrial DNA mutation (A3243G) and a family history of similar health issues.
- - The case emphasizes the importance of recognizing MDM's unusual clinical signs, the role of thorough physical examinations and genetic testing, and the need for clinicians to be aware of MDM to avoid misdiagnosis.
Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Front Genet
August 2024
Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation.
View Article and Find Full Text PDFLong Term Follow Up of a Family with A3243G Mitochondrial Syndrome.
Retin Cases Brief Rep
August 2024
Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California of Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.
Purpose: To describe the clinical and multimodal imaging (MMI) features of a family (proband, sister and mother) with A3243G mitochondrial retinopathy and long-term follow up.
Methods: Medical and imaging records were retrospectively evaluated. Multimodal imaging included ultra-widefield color fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography.
Collision-Induced Unfolding Reveals Disease-Associated Stability Shifts in Mitochondrial Transfer Ribonucleic Acids.
J Am Chem Soc
February 2024
Department of Chemistry, University of Michigan, Ann Arbor, Michigan 48109, United States.
Ribonucleic acids (RNAs) remain challenging targets for structural biology, creating barriers to understanding their vast functions in cellular biology and fully realizing their applications in biotechnology. The inherent dynamism of RNAs creates numerous obstacles in capturing their biologically relevant higher-order structures (HOSs), and as a result, many RNA functions remain unknown. In this study, we describe the development of native ion mobility-mass spectrometry and collision-induced unfolding (CIU) for the structural characterization of a variety of RNAs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!