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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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Scientists have recently identified a genetic mutation that causes epilepsy, and carried by at least 90 people. These mu ...Written By: Carmen LeitchOCT 27, 2022Genetics & Genomics
Hereditary hemochromatosis (HH) is caused by genetic mutations that lead to the abnormal accumulation of iron in differe ...Written By: Carmen Leitch
JAN 12, 2023
Cancer
Hematopoiesis, a biological process resulting in the formation of new blood cells, occurs throughout our lifetime.
...
Written By:
Katie Kokolus
JAN 08, 2023
Genetics & Genomics
A human trial of a CRISPR therapy was recently halted for adverse events. But the technology has tremendous potential to
...
Written By:
Carmen Leitch
JAN 05, 2023
Cancer
All organisms have a circadian rhythm. In plants, for example, circadian rhythm helps sense light, temperature, length o
...
Written By:
Anusha Naganathan
JAN 05, 2023
Cell & Molecular Biology
Microbes have long been engaged in an arms race for dominance, and they have molecular weapons, and defense mechanisms.
...
Written By:
Carmen Leitch
JAN 04, 2023
Health & Medicine
Urea cycle disorders (UCDs) are genetic conditions most commonly diagnosed in children that result in the body&rsqu
...
Written By:
Greta Anne
DEC 29, 2022
Genetics & Genomics
Our body generates a lot of blood cells - on the order of billions of cells every day. Stem cells in the bone marrow giv
...
Written By:
Carmen Leitch
DEC 23, 2022
Genetics & Genomics
Mutations in a handful of genes can cause severe combined immunodeficiency (SCID), which severely disrupts the body's ab
...
Written By:
Carmen Leitch
DEC 19, 2022
Genetics & Genomics
About 10,000 years ago in an area of the Middle East known as the Fertile Crescent, humans began to settle as farmers in
...
Written By:
Carmen Leitch
DEC 14, 2022
Genetics & Genomics
Wild plants are everywhere. So why do some become pests? New research has studied how agriculture created that problem f
...
Written By:
Carmen Leitch
DEC 07, 2022
Cell & Molecular Biology
Twins can provide researchers with a unique opportunity to investigate how a trait might be influenced by genetics or by
...
Written By:
Carmen Leitch
DEC 03, 2022
Immunology
A case of COVID-19 doesn't cause any symptoms at all in some people, while others are killed by the viral infection. Sci
...
Written By:
Carmen Leitch
NOV 30, 2022
Immunology
Leukemia patients are more likely to get autoimmune disorders like aplastic anemia or rheumatoid arthritis than unaffect
...
Written By:
Carmen Leitch
NOV 29, 2022
Genetics & Genomics
Researchers have developed a way to target RNA molecules that can have a harmful result. Instead of targeting the genome
...
Written By:
Carmen Leitch
NOV 28, 2022
Clinical & Molecular DX
MicroRNAs are small (between just 21 and 23 nucleotides), non-coding RNA molecules. They are involved in the post-transc
...
Written By:
Zoe Michaud
NOV 18, 2022
Cell & Molecular Biology
Mitochondria are little organelles that have long been known as the powerhouses of the cell. But in recent years, scient
...
Written By:
Carmen Leitch
NOV 15, 2022
Genetics & Genomics
Telomeres cap the ends of chromosomes, preventing breakage. Some cancer cells can use those protective caps to their adv
...
Written By:
Carmen Leitch
NOV 10, 2022
Microbiology
Mycobacterium tuberculosis is the pathogenic bacterium that causes TB, which is still a major public health problem in m
...
Written By:
Carmen Leitch
NOV 10, 2022
Neuroscience
The HUSH (human silencing hub) protein complex is known to silence genes, and researchers have thought that it could be
...
Written By:
Carmen Leitch
NOV 09, 2022
Genetics & Genomics
Sure, MACHETE is a cool name, but the researchers that developed the technique are hoping people don't focus solely on t
...
Written By:
Carmen Leitch
NOV 08, 2022
Drug Discovery & Development
Cystic fibrosis (CF) affects over 100,000 people worldwide and is caused by one of several known mutations in the CFTR (
...
Written By:
Anusha Naganathan
NOV 06, 2022
Genetics & Genomics
In August of this year, a single patient was enrolled in a trial that used CRISPR to correct a genetic mutation that led
...
Written By:
Carmen Leitch
NOV 02, 2022
Clinical & Molecular DX
Ovarian cancer is a complex disease resulting from mutated cells in the ovaries. As the cells multiply, they can invade
...
Written By:
Zoe Michaud
NOV 02, 2022
Genetics & Genomics
Scientists have recently identified a genetic mutation that causes epilepsy, and carried by at least 90 people. These mu
...
Written By:
Carmen Leitch
OCT 27, 2022
Genetics & Genomics
Hereditary hemochromatosis (HH) is caused by genetic mutations that lead to the abnormal accumulation of iron in differe
...
Written By:
Carmen Leitch