The PI3K/mTOR inhibitor GSK2126458 is effective for treating TSC solid renal tumours

Tuberous sclerosis (TSC) is an inherited tumour syndrome that shares clinical similarities with Birt-Hogg-Dube Syndrome. It is caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma (RCC) can occur. Tumour reduction in TSC … Read more

Characterization of a FLCN mutation associated with RCC

Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by renal cell carcinoma (RCC), pneumothorax and fibrofolliculomas. In their new study, Bartram et al. (2017) identify a heterozygous mutation in the FLCN gene in a patient with RCC. DNA from tumour and a metastasis was analysed and the authors demonstrated skipping of … Read more

Findacure workshop – “Engaging your community for Fundraising”

Fundraising helps charities to make a difference for rare disease patients by supporting research, community events and awareness campaigns. At the end of April, Findacure hosted a workshop in London with several speakers sharing their experience of fundraising. Libbie Read and Mary Rose Roberts, from Findacure, introduced the fundraising theme and gave a talk about … Read more

NKTR-214 therapy study in patients with RCC

Early this year at the ASCO Genitourinary Cancers 2017 meeting, Hurwitz et al. (2017) presented clinical data from a Phase I clinical trial of the oncology agent NKTR-214 in patients with renal cell carcinoma (RCC) showing encouraging evidence of anti-tumour activity, and a favourable safety and tolerability profile. NKTR-214 was developed by Nektar Therapeutics to … Read more

Findacure – Medical Research Explained: Clinical research

Following last week’s blog about pre-clinical research, this week we introduce the second part of Findacure’s webinar explaining clinical research. The subject of clinical research was presented by Sarah Venugopal from Raremark, a company connecting families affected by rare diseases with information on the latest research and treatments in the field. Clinical research, also known … Read more

Findacure – Medical Research Explained: Pre-clinical research

Last week Findacure hosted a webinar explaining the complex medical research field that introduced the different stages of pre-clinical and clinical research necessary to get a treatment available to patients. The first talk focused on pre-clinical research and was presented by Oliver Timmis from the AKU Society, a charity that supports patients with the rare … Read more

DHM attenuates obesity-induced slow-twitch-fiber decrease via FLCN/FNIP1/AMPK pathway

Obesity is often associated with decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Slow-twitch fibers are rich in mitochondria and utilize fatty acid oxidative phosphorylation for energy production. In their new study, Zhou et al. (2017) explore the role of the FLCN/FNIP1/AMPK signalling pathway in obesity-induced reductions in slow-twitch fibers and … Read more

Novel FLCN mutations in Chinese patients

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation … Read more

BHD syndrome: a new case report and a review

Birt-Hogg-Dubé syndrome (BHD), also known as Hornstein–Knickenberg syndrome is an inherited disease associated with skin lesions, lung cysts, pneumothorax and kidney cancer. Jensen et al. (2017) present a new case report of BHD and a review of the literature. This is a great opportunity to review the genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up … Read more

Ammonium regulates mTOR signalling

mTORC1 and mTORC2 are two distinct mammalian TOR (target of rapamycin) complexes that regulate cell growth and metabolism. In cancer, genetic alterations lead to activation of mTOR signalling impacting tumour metabolism. Upregulated glutaminolysis is part of the metabolic reaction occurring in cancer that liberates high levels of ammonium, a toxic waste product. Although the importance … Read more

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