An IRGB-Cnr team and the University of Sassari identified the genetic defect associated with multiple sclerosis and lupus. The discovery opens the doors to the development of new drugs and personalized therapies.
The indicted gene is Tnfsf13B, responsible for the synthesis of Baff cytokine, a protein with immunotological functions. Its anomaly is linked to the risk of developing two autoimmune diseases, lupus and multiple sclerosis. The first affects skin, kidneys and other organs; The second concerns the myelin of the central nervous system.
Both diseases are multifactorial. This means that the autoimmune reaction is stimulated by both genetic factors and environmental factors. The more causes of the disease you discover, the easier it is to understand the biological mechanisms and to understand which are the best therapeutic targets. This creates the premises for personalized therapies tailored to individual needs. Searching for causes conflicts however with the complexity of the immune system.
The team analyzed the genome sequencing of thousands of individuals, both healthy and diseased. It also took into account their immunological profiles. All this lasted 6 years, during which they identified a correlation between the Tnfsf13B gene, the risk of lupus and multiple sclerosis. In this way they also identified previously unknown mechanisms.
For many years, researchers have considered T lymphocytes as the first cause of multiple sclerosis. The study also reveals that B lymphocytes also play a primary role in the development of the disease. Under normal conditions they produce antibodies, but in other cases they participate in the inflammatory response typical of autoimmune diseases.
Thanks to what has been discovered, now many facets of these two diseases are clearer. This is the laying of concrete foundations for the development of new treatments and personalized therapies.
Timu ya IRGB-Cnr na Chuo Kikuu cha Sassari iligundua kasoro ya maumbile inayohusiana na ugonjwa wa multiple sclerosis na lupus. Ugunduzi huo unafungua milango ya kutengenezwa kwa dawa mpya na tiba za kibinafsi. TNF13B ni jeni linalohusika katika utengenezaji wa Baff cytokine, protini yenye kazi ya kinga. Uharibifu huo unahusiana na hatari ya kupatwa na magonjwa mawili ya kinga ya mwili, yaani, ugonjwa wa lupus na ugonjwa wa multiple sclerosis. Ya kwanza huathiri ngozi, figo na viungo vingine; ya pili inahusu myelin ya mfumo wa neva wa kati. Magonjwa yote mawili ni ya sababu nyingi. Hilo lamaanisha kwamba athari ya kinga ya kibinadamu huchochewa na mambo ya urithi na mambo ya mazingira. Kadiri sababu za ugonjwa unavyozidi kugundua, ndivyo inavyokuwa rahisi kuelewa utaratibu wa kibiolojia na kuelewa ni zipi ambazo ni malengo bora ya matibabu. Hilo hufanyiza msingi wa matibabu ya kibinafsi yanayolingana na mahitaji ya mtu binafsi. Hata hivyo, kutafuta visababishi kunapingana na utata wa mfumo wa kinga. Timu hiyo ilichanganua mfuatano wa chembe za urithi za maelfu ya watu, wenye afya na wagonjwa. Pia ilizingatia sifa zao za kinga. Katika kipindi cha miaka sita, watafiti walipata uhusiano kati ya TNF-13, ambayo ni jeni la ugonjwa wa lupus na ugonjwa wa multiple sclerosis. Kwa njia hiyo pia walitambua utaratibu ambao haukuwa umejulikana hapo awali. Kwa miaka mingi, watafiti wameona chembe za T kuwa kisababishi kikuu cha ugonjwa wa multiple sclerosis. Utafiti huo pia unafunua kwamba chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe za chembe. Chini ya hali za kawaida wao hutokeza kingamwili, lakini katika visa vingine wao hushiriki katika majibu ya uvimbe ya kawaida ya magonjwa ya autoimmune. Kwa sababu ya uvumbuzi huo, sasa mambo mengi kuhusu magonjwa hayo mawili yanaeleweka waziwazi. Hii ni kuweka misingi halisi kwa ajili ya maendeleo ya matibabu mapya na matibabu ya kibinafsi.