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Researchers question the mechanism of retinitis pigmentosa

Researchers who made a knock-in mouse-model of the genetic disorder retinitis pigmentosa 59, or RP59, expected to see retinal degeneration and retinal thinning. As reported in the journal Cells, they surprisingly found none, calling into question the commonly accepted -- though never proved -- mechanism for RP59.

12 Jun 2020

Unique mutations could weaken Indian SARS-CoV-2 strain

A new study published on the preprint server bioRxiv in June 2020 suggests that the presence of unique mutations in the viral strains circulating in India has led to their attenuation.

9 Jun 2020

Study identifies a mutation that triggers deadly amyloidosis

Bone marrow plasma cells produce antibodies. These comprise two long and two short protein chains. The pathological proliferation of plasma cells can lead to an overproduction of the short chains.

10 Mar 2020

Gene-editing technology may lead to new model for studying Parkinson’s disease

Parkinson's disease researchers have used gene-editing tools to introduce the disorder's most common genetic mutation into marmoset monkey stem cells and to successfully tamp down cellular chemistry that often goes awry in Parkinson's patients.

27 Feb 2020

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

The new mitochondrial DNA (mtDNA) variant drastically speeds up the disease progression in a mouse model of GRACILE syndrome. This discovery provides a new tool for studies of mitochondrial diseases.

29 Jan 2020

New CRISPR genome “prime editing” system

Gene editing to correct genetic faults and removing the risk of hereditary diseases may soon become reality. Researchers have come up with a new gene editing technology that could help patients with sickle cell anaemia and up 89 percent of other genetic defects.

22 Oct 2019

SATI gene editing could replace CRISPR

Scientists have developed a new gene editing tool called SATI that is safer than CRISPR.

2 Sep 2019

Discovery of second gene responsible natural short-sleep

Sleep is a crucial part of human health. Piling up a chronic sleep debt by consistently sleeping less than is needed for a fully rested feeling causes a number of illnesses, including heart disease, cancer and autoimmune conditions.

1 Sep 2019

Scientists unravel how cells unfold proteins

A happy cell is a balanced cell, but for every stupendously twisted protein it creates, it must tear the old ones asunder. That means untangling a convoluted pretzel-like mass for recycling. Cdc48 plays a critical role in unraveling the spent proteins.

29 Jun 2019

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment's cause and develop a potential and desperately needed nanoparticle-based treatment.

19 Jun 2019

When genomic sequencing fails to diagnose a rare disease

Routine sequencing has given unprecedented insight into the genetics of rare diseases, but genomics fails to diagnose up to half of patients who are tested. That's the problem German scientists tackled in a recent study in the journal Molecular & Cellular Proteomics.

11 Feb 2019

Protein CDK6 appears to be key factor in influencing development of MPN

MPNs are a group of rare, malignant diseases of the bone marrow involving the production of an excess of red blood cells, white blood cells and/or platelets.

6 Feb 2019

Researchers identify multiple new subtypes of most common childhood cancer

Like cartographers completing a map, investigators have identified multiple new subtypes of the most common childhood cancer--research that will likely improve the diagnosis and treatment of high-risk patients.

14 Jan 2019

New, potential therapy can disrupt myeloid cells that promote tumor growth

Cancerous tumors trick myeloid cells, an important part of the immune system, into perceiving them as a damaged part of the body; the tumors actually put myeloid cells to work helping them grow and metastasize (spread).

7 Jan 2019

Research reviews role of protein tyrosine phosphatase in molecular biology

As the proteomics technology develops and human genomic analysis becomes easier to execute, molecules involved in the regulation of biochemical signaling pathways have become interesting subjects for researchers.

28 Dec 2018

Effects of cancer-causing KRAS mutations more diverse than thought, shows study

The effects of KRAS mutations underlying many different types of cancer are more diverse than previously thought, according to a new study led by the University of Eastern Finland.

11 Sep 2018

MIT researchers decode structure of molecule that gives tissues their elasticity

The stretchiness that allows living tissues to expand, contract, stretch, and bend throughout a lifetime is the result of a protein molecule called tropoelastin. Remarkably, this molecule can be stretched to eight times its length and always returns back to its original size.

26 Jun 2018

Study reveals functional dynamics of ion channels

Most ion channels are very selective about the ions, which may or may not pass through them. They may be conductive for potassium ions and non-conductive for sodium ions or vice versa.

19 Feb 2018

Groundbreaking study broadens spectrum of cryopyrin-associated periodic syndromes

A research team from the University of Helsinki, Helsinki University Hospital and Folkhälsan Institute of Genetics in Helsinki, Finland, have identified a new genetic mutation that alters the function of cryopyrin and leads to a life-long periodic inflammation of the cornea, the transparent window of the human eye. Patients who carry the mutation also develop corneal opacities that compromise vision.

29 Jan 2018