Absence of mtDNA mutations in leukocytes of CADASIL patients.

BMC Research Notes
Khaled K Abu-AmeroSaeed Bohlega

Abstract

Ultrastructural and biochemical abnormalities of mitochondria have been reported in skeletal muscle biopsies of CADASIL patients with mutations in the NOTCH3 nuclear gene. Additionally, it was proposed that NOTCH3 gene mutations may predispose the mitochondrial DNA (mtDNA) to mutations. We sequenced the entire mitochondrial genome in five Arab patients affected by CADASIL. The mean number of mtDNA sequence variants (synonymous and nonsynonymous) in CADASIL patients was not statistically significantly different from that in controls (p = 0.378). After excluding haplogroup specific single nucleotide polymorphisms (SNPs) and proved silent polymorphisms, no known or novel pathologic mtDNA mutation(s) could be detected in any patient. Additionally, there was no difference in the prevalence of different mitochondrial haplogroups between patients and controls. Our study group is too small for any valid conclusion to be made. However, if our observation is confirmed in larger study group, then mtDNA mutations or mitochondrial haplogroups may not be important in the pathogenesis of CADASIL.

References

Nov 21, 2001·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·S FinniläK Majamaa
Aug 31, 2002·Nucleic Acids Research·Vasily RamenskyShamil Sunyaev
Feb 11, 2003·Analytical Biochemistry·Barbara J MarriageD Moira Glerum
Jun 24, 2004·Archives of Neurology·Maria Teresa DottiAntonio Federico
Dec 21, 2004·Nucleic Acids Research·Marty C BrandonDouglas C Wallace
Oct 4, 2005·Archives of Pathology & Laboratory Medicine·Khaled K Abu-Amero, Thomas M Bosley
Dec 6, 2005·Acta Neuropathologica·J M SchröderM J Molnar
Jun 30, 2006·Neurogenetics·Johanna Annunen-RasilaKari Majamaa
Oct 6, 2006·Journal of Human Genetics·Hans-Jürgen BandeltClaudio M Bravi
Nov 13, 2007·BMC Medical Genetics·Saeed BohlegaKhaled K Abu-Amero
Dec 13, 2007·Nucleic Acids Research·Dennis A BensonDavid L Wheeler
Feb 14, 2008·BMC Evolutionary Biology·Khaled K Abu-AmeroAna M González
Mar 22, 2008·Science·M I Bidartondo

❮ Previous
Next ❯

Citations

Feb 11, 2010·Genetic Testing and Molecular Biomarkers·Khaled K Abu-AmeroNduna Dzimiri

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
biopsy
PCR

Software Mentioned

PolyPhen

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.