Lupus is a long term autoimmune disease. The body's immune system goes to the overdrive and starts attacking the normal healthy tissue. It's also known as the “Disease of a thousand faces.”
There are several different kinds of lupus, and SLE (Systemic Lupus Erythematosusis) is the most common, accounting nearly 70% of the cases and also more severe than the others. This also can affect in mild or severe forms. Systemic implies that it can affect many parts of the body, including the joints, skin, kidneys, heart, lungs, blood vessels, and brain.
Other forms of lupus are, Discoid Lupus Erythematosus (DLE) which manifests as circular lesions, typically on the scalp and face, Subacute cutaneous lupus erythematosus - skin lesions that appear on parts of the body that have exposure to the sun, Drug Induced Lups (DIL) is an autoimmune condition that is caused by certain medications (there are about 100 medications that could trigger but the condition usually goes away about six months after you stop the medications and Neonatal lupus - condition that occurs in infants when their birth parent passes on certain antibodies through the placenta during pregnancy.
Though Lupus is an autoimmune condition, so far the reasons why are unclear. But women are most at risk. Lupus is two to three times more common in African American women than in white women. It's also more common in Hispanic, Asian, and Native American women. African American and Hispanic women are more likely to have severe forms of lupus. Compared with males, the frequency of the disease with women is about 10 times more.
There's no cure for the disease and recently a team of researchers mainly based in the ANU (Canberra, Australia) ), had carried out whole genome sequencing on the DNA of a Spanish child named Gabriela, who was diagnosed with severe lupus when she was 7 years old. Such a severe case with early onset of symptoms is rare and indicates a single genetic cause. They found a single point mutation in the TLR7 gene (Toll-Like Receptor 7). Via referrals from the US and the China Australia Centre of Personalised Immunology (CACPI) at Shanghai Renji Hospital, they identified other cases of severe lupus where this gene was also mutated.
To confirm that the mutation causes lupus, the team used CRISPR gene-editing to introduce it into mice. These mice went on to develop the disease and showed similar symptoms, providing evidence that the TLR7 mutation was the cause.
The Team lead states " "It has been a huge challenge to find effective treatments for lupus, and the immune-suppressors currently being used can have serious side effects and leave patients more susceptible to infection. There has only been a single new treatment approved by the FDA in about the last 60 years."
Interestingly, this explains why women are more susceptible. Because TLR7 sits on the X chromosome, females have two copies of the gene while males have one. Usually, in females one of the X chromosomes is inactive, but in this section of the chromosome, silencing of the second copy is often incomplete. This means females with a mutation in this gene can have two functioning copies.
Another recent finding was that when mutations cause TLR7 to become less active, then it's associated with some cases of severe COVID-19 infection, highlighting the delicate balance of a healthy immune system.
Now is the task of working with Pharmaceutical companies to explore the development of, or the repurposing of existing treatments, which target the TLR7 gene. Hopefully one day someone will make a breakthrough.
PS: Toll-like receptors (TLRs) are a class of pattern recognition receptors that recognize bacterial or viral pathogen-associated molecular patterns (PAMPs), playing a key role in innate immune responses.
Toll-like receptor TLR-7 is an endosomal innate immune sensor capable of detecting single-stranded ribonucleic acid. It plays an important role in antiviral immune responses and also in various autoimmune disorders and in modulating inflammation.
There are several different kinds of lupus, and SLE (Systemic Lupus Erythematosusis) is the most common, accounting nearly 70% of the cases and also more severe than the others. This also can affect in mild or severe forms. Systemic implies that it can affect many parts of the body, including the joints, skin, kidneys, heart, lungs, blood vessels, and brain.
Other forms of lupus are, Discoid Lupus Erythematosus (DLE) which manifests as circular lesions, typically on the scalp and face, Subacute cutaneous lupus erythematosus - skin lesions that appear on parts of the body that have exposure to the sun, Drug Induced Lups (DIL) is an autoimmune condition that is caused by certain medications (there are about 100 medications that could trigger but the condition usually goes away about six months after you stop the medications and Neonatal lupus - condition that occurs in infants when their birth parent passes on certain antibodies through the placenta during pregnancy.
Though Lupus is an autoimmune condition, so far the reasons why are unclear. But women are most at risk. Lupus is two to three times more common in African American women than in white women. It's also more common in Hispanic, Asian, and Native American women. African American and Hispanic women are more likely to have severe forms of lupus. Compared with males, the frequency of the disease with women is about 10 times more.
There's no cure for the disease and recently a team of researchers mainly based in the ANU (Canberra, Australia) ), had carried out whole genome sequencing on the DNA of a Spanish child named Gabriela, who was diagnosed with severe lupus when she was 7 years old. Such a severe case with early onset of symptoms is rare and indicates a single genetic cause. They found a single point mutation in the TLR7 gene (Toll-Like Receptor 7). Via referrals from the US and the China Australia Centre of Personalised Immunology (CACPI) at Shanghai Renji Hospital, they identified other cases of severe lupus where this gene was also mutated.
To confirm that the mutation causes lupus, the team used CRISPR gene-editing to introduce it into mice. These mice went on to develop the disease and showed similar symptoms, providing evidence that the TLR7 mutation was the cause.
The Team lead states " "It has been a huge challenge to find effective treatments for lupus, and the immune-suppressors currently being used can have serious side effects and leave patients more susceptible to infection. There has only been a single new treatment approved by the FDA in about the last 60 years."
Interestingly, this explains why women are more susceptible. Because TLR7 sits on the X chromosome, females have two copies of the gene while males have one. Usually, in females one of the X chromosomes is inactive, but in this section of the chromosome, silencing of the second copy is often incomplete. This means females with a mutation in this gene can have two functioning copies.
Another recent finding was that when mutations cause TLR7 to become less active, then it's associated with some cases of severe COVID-19 infection, highlighting the delicate balance of a healthy immune system.
Now is the task of working with Pharmaceutical companies to explore the development of, or the repurposing of existing treatments, which target the TLR7 gene. Hopefully one day someone will make a breakthrough.
PS: Toll-like receptors (TLRs) are a class of pattern recognition receptors that recognize bacterial or viral pathogen-associated molecular patterns (PAMPs), playing a key role in innate immune responses.
Toll-like receptor TLR-7 is an endosomal innate immune sensor capable of detecting single-stranded ribonucleic acid. It plays an important role in antiviral immune responses and also in various autoimmune disorders and in modulating inflammation.
