Genetic Discoveries of 2018 – News and Breakthroughs

The genes are in-charge of most physical aspects of an organism from the development of an embryo to determining what the next generation will be like. Genetics and the molecular biology has enabled the study of how genes work in a cell and determine their functions. Nevertheless, they are insufficient. Consequently, biologists all around the world are focused to unravel all the secrets of genes, as a result of which, several discoveries are made each year.

List of 7 Important Genetic Breakthroughs of 2018

This review briefs on some of the significant genetic discoveries of 2018.

1. Mitochondrial DNA Can be Inherited Paternally

The powerhouse of the cell, mitochondria, has its own compact genome, distinct from the nuclear genome. Normally, the concentration of mitochondrial DNA in sperm is very low and often the paternal mtDNA is obliterated early in the fertilization process. Usually, humans inherit mitochondrial DNA from their mother only, which is also the case for most multicellular organisms. However, one of the recent studies published in PNAS has shown evidence to support the biparental inheritance of mitochondrial DNA, which means mtDNA can come from father too. Through advanced gene-sequencing techniques, the researchers identified a total of 17 individuals from three unrelated families with a high level of mtDNA heteroplasmy ranging from 24 to 76%, that is biparental mtDNA transmission is seen in those individuals. The research signifies that elucidating the molecular mechanism to this exceptional mode of inheritance could provide new insights not only on the transmission of mtDNA but also to develop new approaches for the therapeutic treatment of pathogenic mtDNA transmission.

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2. Smoking Pot Can Alter Genetic Profile of Sperm

New research conducted at the Duke University Health System suggests how marijuana could affect the genetic makeup of sperms of males in their reproductive years. Marijuana has tetrahydrocannabinol (THC) as one of its active ingredients and it is the principal psychoactive constituent of cannabis. Experiments in rats and a study with 24 men concluded that THC targets genes in two major cellular pathways and alters DNA methylation, a process vital to normal development. The research shows that THC also affects epigenetics, triggering structural and regulatory changes in the DNA of users’ sperm and it is highly anticipated that the changes could even affect the offsprings of cannabis smokers.

3. Genes Helping Submerged Plants

Researchers at the Stockholm University in Sweden discovered the function of the PLD gene that helps plants to survive hypoxia (oxygen deficiency) when they are underwater. During such conditions, special genes turn on the expression of other genes to help defend the plant. PLD is one of such genes which encodes the enzyme phospholipase D. During the study, the researchers used PLD mutant plants along with the wild-type plants in a simulated flood environment. Then it was observed that the mutant plants, when deprived of oxygen, turned yellow and died while the wild-type plants survived the simulated condition.

4. Discovery of New Gene Causing Hair Loss

Scientists have deciphered a new gene responsible for the rare form of hereditary hair loss known as Hypotrichosis simplex in which individuals experience hair loss and thinning of hair shaft starting in early childhood. The team of researchers from Germany and Switzerland discovered a mutation in LSS gene encoding for lanosterol synthase, which plays a key role in an alternative metabolic pathway for cholesterol that is vital for hair follicles (where hair roots are formed) and is not related to the blood cholesterol level. In a study conducted on three unrelated families of different ancestry, scientists found that all those affected had a mutation in the LSS gene. If the LSS gene is not mutated the associated enzyme is located in the ER in follicle cells, but if the gene is mutated, the enzyme lanosterol synthase also spreads outside to the cytosol, which is the probable cause of a malfunction.

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5. New Epigenetic Drug Strategy to Treat Cancer

Led by Jean-Pierre Issa at Lewis Katz School of Medicine at Temple University in Philadelphia, the research team has discovered that inhibiting CDK9, a DNA transcription regulator reactivates genes that have been epigenetically silenced by cancer. CDK9 inhibition dephosphorylates BRG1 protein leading to gene reactivation and leads to restored tumor suppressor gene expression and enhanced anti-cancer immunity. Furthermore, CDK9 inhibition induces sensitivity to the immune checkpoint inhibitor α-PD-1 in vivo, thus making it an excellent target for epigenetic cancer therapy. It is the first time CDK9 has been linked to gene silencing in mammals.

6. Is Being Neurotic in Your Gene?

A genome-wide association study carried out by an international team of researchers led by Vrije University in Amsterdam studied the genes of 449,484 people. In the results, they found 124 new genetic regions containing 599 genes that may be related to neuroticism, a personality trait related to depression, anxiety, and schizophrenia. The researchers believe that new insights could be developed about the biological mechanisms underlying neuroticism which may eventually be informative for the development of drugs to treat depression. The study was published in the journal Nature Genetics.

7. Male-only Gene That Can Protect Against Leukaemia

Scientists have discovered a new attribute of the male-only gene UTY, one of the few genes present exclusively in the Y chromosome. And, it has tumor-suppressing properties against acute myeloid leukemia (AML), an aggressive blood cancer that affects people of all ages. Males have an X and a Y chromosome as sex chromosomes but females lack a Y chromosome and instead have two X chromosomes. However, the UTX gene in X chromosome lacks this tumor suppressing property. The research was carried out by scientists from Wellcome Sanger Institute and the University of Cambridge in England and is published in Nature Genetics.