Tag Archives: mutation
The type of mitochondrial DNA mutations more than their quantity affects organismal fitness
Present in the majority of cells, mitochondria play a major role in the production of cellular and organismal energy, and contribute to cellular/ion homeostasis. Mitochondria possess multiple copies of their own genome (mtDNA), that encodes 13 essential
Discovery and mutation of a novel enzyme for the removal of environmental pollutants
Environmental pollution is one of the biggest challenges in the world today, as society faces the consequences of intense industrial development. The widespread use of pesticides in agriculture leads to high quality products, while minimizing losses in
Forward and reverse mutations in stages of cancer development
Mutations in somatic genomes are known to be the basis of cancers, understanding of which is essential for cancer prevention, diagnosis and therapy. In our study, mutations changing the genomic DNA sequences of a cell from its
Repetitive DNA in the ABCA7 gene influences Alzheimer’s disease
Dementia, which is characterized by decline of memory or other cognitive traits to the extent that a person’s daily functioning is affected, is one of the most important global health challenges of our time. Approximately 50 million
Uncertain pathogenicity of mutations in Wilson gene
Wilson’s disease is caused by an autosomal recessive disorder of the hepatic copper transport of ATP 7B. The responsible gene is located on the long arm of chromosome 13. Currently more than 500 mutations are known which
‘DNA Fossils’, ancient mtDNA preserved in the nuclear genome: witnesses of human evolution milestones
Fragments of mitochondrial DNA (mtDNA) are known to get inserted into the DNA of the cell nucleus (i.e., our main genome) and to form NUMTs, i.e. dysfunctional sequences, nuclear pseudogenes of the mtDNA. Hundreds of NUMTs have
Too hard to defeat Devils
Hematopoietic cell transplantation (HCT) offers potentially curative therapy for patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). However, relapse following HCT is considerable and becomes a major cause of failure in patients with MDS and AML.
p53 gene reactivation reverts hypoxic resistance in KRAS mutant tumor cells decreasing glucose uptake
When growing distant from primary blood supply sites, tumor cells face hypoxia characterized by niches restricted in oxygen and glucose. Cells acquiring resistant to hypoxic stress undergo metabolic re – programming, and increased resistance to 3 –
Genetics of mice and men: NF1 patient-specific mouse models offer hope
Neurofibromatosis type 1 (NF1) is one of the most common inherited neurological disorders, affecting about 1 in 3,000 people throughout the world. The disorder is characterized by light brown skin spots (café-au-lait spots) and small benign growths
Molecular mechanism of phenotypic plasticity
Darwinian evolution is considered to be the way that life adapts in every possible environment in Earth. The great evolutionary biologist of the past century Theodosius Dobzansky used to say: “Nothing in Biology Makes Sense Except in
Patterns of mutation in cancer genes
In most cancers, the majority of the changes to the DNA (termed mutations), acquired during the disease process are inconsequential in terms of driving the cancer, however a few of the changes in a small set of
MYD88 mutation is associated with an unfavorable outcome of Primary Diffuse Large B-cell Lymphoma
Malignant lymphoma is a cancer of lymphocytes. This is actually a disease group consisting of multiple subtypes, among which diffuse large B-cell lymphoma (DLBCL) is characterized by diffuse proliferation of large B lymphoid cells. Primary DLBCL of
A novel human R25C-phospholamban mutation induces depressed contraction force and irregular beat in the heart
Heart failure refers to the inability of the heart to pump enough blood to the periphery and meet the body’s demands for energy and oxygen. The symptoms of heart failure commonly include shortness of breath, asthma, fatigue and leg swelling. Currently, heart failure is
Genetic disorders in primary aldosteronism – familial and somatic: an explanatory attempt
Aldosterone is the steroid hormone secreted from the adrenal gland in response to sodium deficiency, blood volume loss or potassium loading. It acts on the kidney and the colon to retain sodium and excrete potassium, in a
A “TORgeted” way to heal the gut
Our intestine is critical for absorbing the dietary nutrients that we need to survive. It performs this function by producing, from pools of intestinal stem cells (ISCs), a constant stream of new cells (differentiated cells) that have
The genetic secrets of Uveal Melanoma
Uveal melanoma (UM) is the most common primary cancer occurring in the eyes of adults, with 1/100,000 new cases per year in the Western world. Most patients are between 60 and 65 years old. Although it is a
TGFbeta signalopathies as a paradigm for translation medicine
Marfan syndrome (MFS) is a disorder that affects different organ systems, such as the heart, aorta, eyes and the skeleton. Typically MFS patients present with tall stature, hands with long fingers, chest deformity. One of its most
Novel presenilin 1 mutation in familial late-onset Alzheimer’s disease
Alzheimer’s disease (AD) is a progressive dementia, affecting over 20 million people worldwide, mainly adult subjects in advanced age characterized by loss of neurons and the presence of amyloid plaques in the brain. Several families have been
A novel reovirus mutant: toward the next generation of viruses for cancer treatment?
In the last decade or so, it has been realized that viruses are not only foes to fight, but possible therapeutics against diseases such as cancer. Most of these so-called oncolytic viruses are engineered to acquire desirable
Mutations in the gene DLL4 cause Adams-Oliver syndrome
Adams-Oliver syndrome (AOS) is a rare hereditary disorder that occurs in 1 in 225.000 individuals and is characterized by the presence of both scalp and limb defects. Congenital anomalies of the heart and blood vessels are also
