The study lead by Mrs Pooja Solanki from Pr Urban’s team is based on conversations she has had with patients who are members of the Cutis Laxa Facebook group.
The prerequisite being that interviewed people should speak English, the number of participants was therefore limited.
It is a qualitative study on the main issues faced by patients suffering from Cutis Laxa.
The best known function of mithocondria is energy production (ATP synthesis) via the respiratory chain.
However, this organelle is also central in several metabolic processes like the tricarboxylic acid (TCA) cycle, the urea cycle and important for cellular stress response processes and programmed cell death.
This presentation will focus on the clinical differences between and within the single entities, discussed in relation to known and novel findings from cellular and animal models.
By this, an overview about the research on the mitochondria related cutis laxa disorders will be given.
The underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups,
based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa.
The exact way these divergent molecular lead to elastin abnormalities remain unclarified.
Secreted proteins and membrane proteins have to pass through the secretory pathway, which is not only responsible for the transport to the correct cellular compartment, but also for the maturation and modification of these proteins. A central part of the secretory pathway is the Golgi compartment, which consists of several « pancake-like » membrane sacks (cisternae).
One important modification is glycosylation, which has been found altered in a whole group of Cutis Laxa disorders, that are also named congenital disorders of glycosylation (CDG).
Elastic fiber assembly, or elastogenesis, is a complex process that is precisely regulated in a spatiotemporal manner and depends on proper growth factor signaling and mechanosensing.
The underlying molecular defect in cutis laxa syndromes affect the synthesis and/or association associated extracellular matrix proteins.
Understanding how the fine tune mechanisms of elastic fibers formation is perturbed in the different types of Cutis Laxa is crucial to design molecular therapies in preclinical trials using animal models.
On 3rd December 2022, during the Dermatology Days of Paris (JDP),
organised by the French Society of Dermatology,
Marie-Claude Boiteux interviewed Pr Ludovic Martin for “Canal JDP”:
24th & 25th November 2022 :
National and Scientific Days of the FIMARAD network for rare skin disorders.
Besides the important progress made by the network’s members, together with patient representatives in the workgroups,
it was the opportunity to strengthen the collaboration between FIMARAD and the French Federation for Skin (FFP).
14thJanuary : Annual Meeting
10th March: Scientific Day
27th September : Webinar of the Thematic group concerned with Cutis Laxa
18th January : last meeting to establish the criteria on which ERNs will be re-assessed and 15th June : final document.
21st January meeting of the Organising Committee and 31st January Good Practice webinar
27th to 30thJune European Conference on Rare Disorders
18th May Annual General Meeting
The 1st WCRSD (First International Congress on Rare Skin Disorders) was held in Paris
7th to 9th June 2022.
Organised by ERN-Skin, René Touraine Foundation, Fimarad as well as Patients Representatives and Globalskin for the Patient Session, it was a huge success !!
With a successful Patient Forum,
Presentation on Cutis Laxa new classification,
It was also the occasion to meet with other organisations.
