Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members

Alström (ALMS) and Bardet-Biedl syndromes (BBS) are rare ciliopathies characterized by obesity and hyperglycemia that lead to type 2 diabetes, but also other disorders, including neurodegeneration. However, isolated clinical manifestations can be observed in carriers of heterozygous mutations in the ALMS1 and BBS genes. Recently, the influence of oral bacteria on the presence of obesity, type 2 diabetes, and neurodegenerative processes has been widely discussed. The purpose of the research project was to analyze the profile of the microbiome in the oral cavity by sequencing the 16S rRNA gene in ALMS/BBS patients and carriers of causative variants in these genes. Oral mucosal swabs were taken from 8 ALMS/BBS patients, 24 family members, 20 obese patients, and 29 healthy individuals. Streptococcus (30.7%), Haemophilus (18.9%), and Prevotella (11%) were the most common bacteria in the study group. Comparison between groups showed a higher abundance of Prevotella, Enterococcus, Eikenella, Capnocytophaga, Parvimonas, Selenomonas, and Corynobacterium, and a lower abundance of Lactobacillus in the study group compared to other groups. The specific profile of the oral microbiome found in patients with variants in the ALMS1 and BBS genes may enable the identification of the modulatory role of the oral microbiome in these disorders and point to new directions for additional therapy for these patients and heterozygous family members in the future.