PMID: 9436442Jan 22, 1998Paper

Effect of maternal paternal transmissions on clinical manifestations of CTG repeat on myotonic dystrophy

Nihon rinsho. Japanese journal of clinical medicine
I Eguchi, S Tsuji

Abstract

The increasing size of the CTG repeat in successive generations is considered to the molecular basis for anticipation in DM. Maternal offspring show severe clinical manifestation than paternal transmitted offspring. The intergenerational amplification of this repeat is influenced by the sex of the parent transmitting mutant allele, in that a greater average intergenerational amplification is seen on maternal transmission. Also in the severest form of CDM almost exclusively transmitted maternal allele, the number of repeats is generally higher than that seen in non-CDM. But whether the unknown another maternal factor influence defined children having large mutant allele from mother is important question. The parental bias based on the different methylation patterns, mitochondria genome or different expressions of mRNA species are unlikely. The maternal effect might be explained the differences of the expressions of mRNA according to alternating splicing. And intrauterine effect, chromosomal imprinting or other unknown maternal factors have been expected to be involved in the pathophysiology.

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.