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Gene mutations
Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.
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JUN 29, 2023Clinical & Molecular DX
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JUN 29, 2023
Clinical & Molecular DX
Researchers discovered the first biomarker of multiple sclerosis severity, which was revealed after an assessment of gen
...
Written By:
Carmen Leitch
JUN 28, 2023
Genetics & Genomics
A blood condition called clonal hematopoiesis of indeterminate potential (CHIP) that has been linked to multiple disorde
...
Written By:
Carmen Leitch
JUN 26, 2023
Genetics & Genomics
The first gene therapy that can treat Duchenne muscular dystrophy (DMD) has been approved by the U.S. Food and Drug Admi
...
Written By:
Carmen Leitch
JUN 12, 2023
Clinical & Molecular DX
Aldosterone is a hormone that causes salt retention, which raises blood pressure. Some people have abnormal high aldoste
...
Written By:
Carmen Leitch
JUN 08, 2023
Genetics & Genomics
The human genome contains many sequences that came from ancient viruses. It's been thought that most of these regions ar
...
Written By:
Carmen Leitch
JUN 06, 2023
Clinical & Molecular DX
When a baby is born in the United States, a bit of blood is taken from the baby's heel in what is called a heel stic
...
Written By:
Carmen Leitch
JUN 05, 2023
Genetics & Genomics
Bipolar disorder (BD) is thought to impact nearly one percent of all people. BD can cause a cycle of sudden, depressed m
...
Written By:
Carmen Leitch
JUN 05, 2023
Clinical & Molecular DX
There is now a blood test that can diagnose a rare neurometabolic condition known as Glut1 deficiency syndrome, or De Vi
...
Written By:
Carmen Leitch
MAY 31, 2023
Genetics & Genomics
Even as the world grapples with COVID-19, there has been another massive outbreak of a viral pathogen called H5N1 influe
...
Written By:
Carmen Leitch
MAY 30, 2023
Cell & Molecular Biology
The endoplasmic reticulum (ER) is the single biggest structure in eukaryotic cells, and it's made up of various shap
...
Written By:
Carmen Leitch
MAY 29, 2023
Genetics & Genomics
It's estimated that about 466 million people have some form of hearing loss, making it one of the most common sensor
...
Written By:
Carmen Leitch
MAY 27, 2023
Genetics & Genomics
Scientists have learned more about a disorder caused by a genetic mutation in which carriers feel minimal or no pain, an
...
Written By:
Carmen Leitch
MAY 25, 2023
Cell & Molecular Biology
There are many kinds of muscular dystrophies, which are caused by genetic mutations. These diseases reduce mobility, and
...
Written By:
Carmen Leitch
MAY 22, 2023
Cell & Molecular Biology
Fragile X syndrome is the most commonly inherited form of developmental and intellectual disability. Now scientists may
...
Written By:
Carmen Leitch
MAY 16, 2023
Technology
Personalized medicine, also known as precision medicine, is an approach to healthcare that considers unique patient char
...
Written By:
Greta Anne
MAY 12, 2023
Cell & Molecular Biology
Recent studies are changing what scientists have long thought about telomeres, which are repetitive sequences of DNA tha
...
Written By:
Carmen Leitch
MAY 02, 2023
Immunology
Published by Bindi M. Doshi, PhD MHC-peptide exchange is considered to be tricky by researchers.
...
Sponsored By:
MBL International
APR 29, 2023
Genetics & Genomics
The Zoonomia project is an international effort to understand how a huge array of diverse creatures can arise from mamma
...
Written By:
Carmen Leitch
APR 27, 2023
Clinical & Molecular DX
Prostate cancer impacts men from all ethnic and racial groups, and has particularly high mortality rates compared to oth
...
Written By:
Carmen Leitch
APR 20, 2023
Genetics & Genomics
Social stress can affect the way genes are expressed. A new study has found that epigenetic effects could explain why so
...
Written By:
Carmen Leitch
APR 20, 2023
Cancer
The bacteria Helicobacter pylori (H. pylori) can infect tissues in the mucosal layer that lines the stomach.
...
Written By:
Katie Kokolus
APR 17, 2023
Cancer
Endometrial cancer, characterized by the formation of malignant cells in the endometrium, the tissue that lines the insi
...
Written By:
Katie Kokolus
APR 16, 2023
Genetics & Genomics
Scientists have shown how interventions like a reduced calorie diet can promote healthier aging processes.
Written By:
Carmen Leitch
APR 15, 2023
Drug Discovery & Development
The exact match for a mutant protein's mRNA, called an antisense oligonucleotide (ASO), stops cancerous protein producti
...
Written By:
Amielle Moreno