Tag Archives: mutation

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

A hereditary mutation in Schwartz-Jampel syndrome

Schwartz-Jampel syndrome (SJS) type 1, also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by short stature, neuromyotonia (sustained contraction of skeletal muscles), chondrodysplasia (abnormal development of the cartilage of long bones), joint contractures,

How cancer cells resist the action of microtubule-targeting chemotherapeutic drugs? A study of β-tubulin mutations

Microtubules (MTs) are essential structural components of cells. They are made up of polymers of protein subunits of α,β-tubulin and are highly dynamic, undergoing rapid phases of assembly and disassembly. The dynamic behavior of MTs is essential

Conditional mutations in drosophila

In 1865, Gregor Mendel discovered the laws of inheritance for the traits of living organisms. Reproduction, the major property of living matter and mode of its existence in the Universe, found itself in the spotlight of biology.

GLI mutations in patients with Hirschsprung disease

Hirschsprung (HSCR) disease (congenital megacolon) is one of the more common birth defects. It is a global problem but is particularly prevalent in Asia, affecting 1 in 3000 babies. These babies suffer from severe constipation and intestinal